Author: "Denecke, Jonas" - Searchworks@Jio Institute Digital Library Search Results

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51. Development of the “Hamburg Best Practice Guidelines for ICV−Enzyme Replacement Therapy (ERT) in CLN2 Disease” Based on 6 Years of Treatment Experience in 48 Patients

Author: Schwering, Christoph, additional, Kammler, Gertrud, additional, Wibbeler, Eva, additional, Christner, Martin, additional, Knobloch, Johannes K.-M., additional, Nickel, Miriam, additional, Denecke, Jonas, additional, Baehr, Michael, additional, and Schulz, Angela, additional
Published: 2021
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52. Griscelli Syndrome Type 1: When the Hair Becomes Gray in Children

Author: Driemeyer, Joenna, additional, Scholz, Tasja, additional, Weiss, Deike, additional, Neu, Axel, additional, Johannsen, Jessika, additional, and Denecke, Jonas, additional
Published: 2021
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53. DominantKPNA3Mutations Cause Infantile‐Onset Hereditary Spastic Paraplegia

Author: Schob, Claudia, primary, Hempel, Maja, additional, Safka Brozkova, Dana, additional, Jiang, Huafang, additional, Kim, Soo Yeon, additional, Batzir, Nurit Assia, additional, Orenstein, Naama, additional, Bierhals, Tatjana, additional, Johannsen, Jessika, additional, Uhrova Meszarosova, Anna, additional, Chae, Jong‐Hee, additional, Seeman, Pavel, additional, Woidy, Mathias, additional, Fang, Fang, additional, Kubisch, Christian, additional, Kindler, Stefan, additional, and Denecke, Jonas, additional
Published: 2021
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54. Hypoglykämie+Septum pellucidum-Agenesie = septo-optische Dysplasie!

Author: Fröschle, Glenn M.C., additional, Ebenebe, Chinedu U., additional, Herrmann, Jochen, additional, Denecke, Jonas, additional, Singer, Dominique, additional, and Dabek, Martin, additional
Published: 2021
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55. Brainstem Disconnection: Two Additional Patients and Expansion of the Phenotype

Author: Poretti, Andrea, Denecke, Jonas, Miller, Douglas C., Schiffmann, Holger, Buhk, Jan Hendrik, Grange, Dorothy K., Doherty, Dan, and Boltshauser, Eugen
Published: 2015
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56. Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort

Author: Ven, Amelie T., primary, Johannsen, Jessika, additional, Kortüm, Fanny, additional, Wagner, Matias, additional, Tsiakas, Konstantinos, additional, Bierhals, Tatjana, additional, Lessel, Davor, additional, Herget, Theresia, additional, Kloth, Katja, additional, Lisfeld, Jasmin, additional, Scholz, Tasja, additional, Obi, Nadia, additional, Wortmann, Saskia, additional, Prokisch, Holger, additional, Kubisch, Christian, additional, Denecke, Jonas, additional, Santer, René, additional, and Hempel, Maja, additional
Published: 2021
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57. Additional file 1 of The natural history of Canavan disease: 23 new cases and comparison with patients from literature

Author: Bley, Annette, Denecke, Jonas, Kohlsch��tter, Alfried, Sch��n, Gerhard, Hischke, Sandra, Guder, Philipp, Bierhals, Tatjana, Lau, Heather, Hempel, Maja, and Eichler, Florian S.
Abstract: Additional file 1: Table 1. List of Patients. Table 2 Neurologic symptoms: Frequency and onset of neurologic symptoms of CD patients (study group) sorted by age at onset of symptoms (ascending). * Traeger et al. [1]; Nystagmus: n/N = 51/59, median of age of onset 3 months (range 0��60 months), **Traeger et al. [1], Ozand et al. [2]: Seizures: n/N = 42/74, median of age of onset 19 months (range 0��180 months). Table 3. Medication received by study patients: Positive effects of the experimental treatment were attributed by 3/11 of the patients�� caregivers. Negative side effects, which mainly concerned the gastrointestinal system, were reported for 5/11 patients who received medication that was meant to ameliorate the course of CD. 50% (5/10) of the patients that received anticonvulsive drugs, needed combined use of multiple drugs in order to control the symptoms.
Published: 2021
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58. Additional file 4 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Author: Mannucci, Ilaria, Dang, Nghi D. P., Huber, Hannes, Murry, Jaclyn B., Abramson, Jeff, Althoff, Thorsten, Siddharth Banka, Baynam, Gareth, Bearden, David, Beleza-Meireles, Ana, Benke, Paul J., Siren Berland, Bierhals, Tatjana, Bilan, Frederic, Bindoff, Laurence A., Braathen, Geir Julius, Busk, Øyvind L., Jirat Chenbhanich, Denecke, Jonas, Escobar, Luis F., Estes, Caroline, Fleischer, Julie, Groepper, Daniel, Haaxma, Charlotte A., Hempel, Maja, Holler-Managan, Yolanda, Houge, Gunnar, Jackson, Adam, Kellogg, Laura, Keren, Boris, Kiraly-Borri, Catherine, Kraus, Cornelia, Kubisch, Christian, Guyader, Gwenael Le, Ljungblad, Ulf W., Brenman, Leslie Manace, Martinez-Agosto, Julian A., Might, Matthew, Miller, David T., Minks, Kelly Q., Moghaddam, Billur, Nava, Caroline, Nelson, Stanley F., Parant, John M., Prescott, Trine, Rajabi, Farrah, Hanitra Randrianaivo, Reiter, Simone F., Schuurs-Hoeijmakers, Janneke, Shieh, Perry B., Slavotinek, Anne, Smithson, Sarah, Stegmann, Alexander P. A., Tomczak, Kinga, Tveten, Kristian, Wang, Jun, Whitlock, Jordan H., Zweier, Christiane, McWalter, Kirsty, Juusola, Jane, Quintero-Rivera, Fabiola, Fischer, Utz, Yeo, Nan Cher, Hans-Jürgen Kreienkamp, and Lessel, Davor
Abstract: Additional file 4: Figure S2. De novo mosaicism in individual 6.
Published: 2021
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59. Additional file 2 of The natural history of Canavan disease: 23 new cases and comparison with patients from literature

Author: Bley, Annette, Denecke, Jonas, Kohlsch��tter, Alfried, Sch��n, Gerhard, Hischke, Sandra, Guder, Philipp, Bierhals, Tatjana, Lau, Heather, Hempel, Maja, and Eichler, Florian S.
Abstract: Additional file 2. Figure 1: Seizure frequency of Canavan patients over the course of disease. Seizure frequency of CD patients over the decade of life is shown. Seizure Frequency is classified in 4 groups: no seizures/year, 1-2 seizures/year, 12 seizures/year. Percentage means: Number of patients with a certain seizure frequency / number of all study participant of this age. Figure 2: Head circumference of 9 female and 10 male patients with Canavan disease within the first 6.5 years of life. Bold lines stand for patient��s data series. Dotted lines indicate males, continuous lines females. Local regression (loess) and 95% confidence interval of loess was estimated. Thin lines and grey area indicates reference percentiles for head circumference of girls and boys (Robert-Koch-Institute, KIGGS).
Published: 2021
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60. Additional file 6 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Author: Mannucci, Ilaria, Dang, Nghi D. P., Huber, Hannes, Murry, Jaclyn B., Abramson, Jeff, Althoff, Thorsten, Siddharth Banka, Baynam, Gareth, Bearden, David, Beleza-Meireles, Ana, Benke, Paul J., Siren Berland, Bierhals, Tatjana, Bilan, Frederic, Bindoff, Laurence A., Braathen, Geir Julius, Busk, Øyvind L., Jirat Chenbhanich, Denecke, Jonas, Escobar, Luis F., Estes, Caroline, Fleischer, Julie, Groepper, Daniel, Haaxma, Charlotte A., Hempel, Maja, Holler-Managan, Yolanda, Houge, Gunnar, Jackson, Adam, Kellogg, Laura, Keren, Boris, Kiraly-Borri, Catherine, Kraus, Cornelia, Kubisch, Christian, Guyader, Gwenael Le, Ljungblad, Ulf W., Brenman, Leslie Manace, Martinez-Agosto, Julian A., Might, Matthew, Miller, David T., Minks, Kelly Q., Moghaddam, Billur, Nava, Caroline, Nelson, Stanley F., Parant, John M., Prescott, Trine, Rajabi, Farrah, Hanitra Randrianaivo, Reiter, Simone F., Schuurs-Hoeijmakers, Janneke, Shieh, Perry B., Slavotinek, Anne, Smithson, Sarah, Stegmann, Alexander P. A., Tomczak, Kinga, Tveten, Kristian, Wang, Jun, Whitlock, Jordan H., Zweier, Christiane, McWalter, Kirsty, Juusola, Jane, Quintero-Rivera, Fabiola, Fischer, Utz, Yeo, Nan Cher, Hans-Jürgen Kreienkamp, and Lessel, Davor
Abstract: Additional file 6. Clinical reports of here presented individuals.
Published: 2021
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61. Additional file 5 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Author: Mannucci, Ilaria, Dang, Nghi D. P., Huber, Hannes, Murry, Jaclyn B., Abramson, Jeff, Althoff, Thorsten, Siddharth Banka, Baynam, Gareth, Bearden, David, Beleza-Meireles, Ana, Benke, Paul J., Siren Berland, Bierhals, Tatjana, Bilan, Frederic, Bindoff, Laurence A., Braathen, Geir Julius, Busk, Øyvind L., Jirat Chenbhanich, Denecke, Jonas, Escobar, Luis F., Estes, Caroline, Fleischer, Julie, Groepper, Daniel, Haaxma, Charlotte A., Hempel, Maja, Holler-Managan, Yolanda, Houge, Gunnar, Jackson, Adam, Kellogg, Laura, Keren, Boris, Kiraly-Borri, Catherine, Kraus, Cornelia, Kubisch, Christian, Guyader, Gwenael Le, Ljungblad, Ulf W., Brenman, Leslie Manace, Martinez-Agosto, Julian A., Might, Matthew, Miller, David T., Minks, Kelly Q., Moghaddam, Billur, Nava, Caroline, Nelson, Stanley F., Parant, John M., Prescott, Trine, Rajabi, Farrah, Hanitra Randrianaivo, Reiter, Simone F., Schuurs-Hoeijmakers, Janneke, Shieh, Perry B., Slavotinek, Anne, Smithson, Sarah, Stegmann, Alexander P. A., Tomczak, Kinga, Tveten, Kristian, Wang, Jun, Whitlock, Jordan H., Zweier, Christiane, McWalter, Kirsty, Juusola, Jane, Quintero-Rivera, Fabiola, Fischer, Utz, Yeo, Nan Cher, Hans-Jürgen Kreienkamp, and Lessel, Davor
Abstract: Additional file 5: Figure S3. Whole gene deletion in individual 24.
Published: 2021
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62. Additional file 8 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Author: Mannucci, Ilaria, Dang, Nghi D. P., Huber, Hannes, Murry, Jaclyn B., Abramson, Jeff, Althoff, Thorsten, Siddharth Banka, Baynam, Gareth, Bearden, David, Beleza-Meireles, Ana, Benke, Paul J., Siren Berland, Bierhals, Tatjana, Bilan, Frederic, Bindoff, Laurence A., Braathen, Geir Julius, Busk, Øyvind L., Jirat Chenbhanich, Denecke, Jonas, Escobar, Luis F., Estes, Caroline, Fleischer, Julie, Groepper, Daniel, Haaxma, Charlotte A., Hempel, Maja, Holler-Managan, Yolanda, Houge, Gunnar, Jackson, Adam, Kellogg, Laura, Keren, Boris, Kiraly-Borri, Catherine, Kraus, Cornelia, Kubisch, Christian, Guyader, Gwenael Le, Ljungblad, Ulf W., Brenman, Leslie Manace, Martinez-Agosto, Julian A., Might, Matthew, Miller, David T., Minks, Kelly Q., Moghaddam, Billur, Nava, Caroline, Nelson, Stanley F., Parant, John M., Prescott, Trine, Rajabi, Farrah, Hanitra Randrianaivo, Reiter, Simone F., Schuurs-Hoeijmakers, Janneke, Shieh, Perry B., Slavotinek, Anne, Smithson, Sarah, Stegmann, Alexander P. A., Tomczak, Kinga, Tveten, Kristian, Wang, Jun, Whitlock, Jordan H., Zweier, Christiane, McWalter, Kirsty, Juusola, Jane, Quintero-Rivera, Fabiola, Fischer, Utz, Yeo, Nan Cher, Hans-Jürgen Kreienkamp, and Lessel, Davor
Abstract: Additional file 8: Figure S5. Recombinant protein variants of DHX30 induce the formation of cytoplasmic clusters.
Published: 2021
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63. Additional file 1 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Author: Mannucci, Ilaria, Dang, Nghi D. P., Huber, Hannes, Murry, Jaclyn B., Abramson, Jeff, Althoff, Thorsten, Siddharth Banka, Baynam, Gareth, Bearden, David, Beleza-Meireles, Ana, Benke, Paul J., Siren Berland, Bierhals, Tatjana, Bilan, Frederic, Bindoff, Laurence A., Braathen, Geir Julius, Busk, Øyvind L., Jirat Chenbhanich, Denecke, Jonas, Escobar, Luis F., Estes, Caroline, Fleischer, Julie, Groepper, Daniel, Haaxma, Charlotte A., Hempel, Maja, Holler-Managan, Yolanda, Houge, Gunnar, Jackson, Adam, Kellogg, Laura, Keren, Boris, Kiraly-Borri, Catherine, Kraus, Cornelia, Kubisch, Christian, Guyader, Gwenael Le, Ljungblad, Ulf W., Brenman, Leslie Manace, Martinez-Agosto, Julian A., Might, Matthew, Miller, David T., Minks, Kelly Q., Moghaddam, Billur, Nava, Caroline, Nelson, Stanley F., Parant, John M., Prescott, Trine, Rajabi, Farrah, Hanitra Randrianaivo, Reiter, Simone F., Schuurs-Hoeijmakers, Janneke, Shieh, Perry B., Slavotinek, Anne, Smithson, Sarah, Stegmann, Alexander P. A., Tomczak, Kinga, Tveten, Kristian, Wang, Jun, Whitlock, Jordan H., Zweier, Christiane, McWalter, Kirsty, Juusola, Jane, Quintero-Rivera, Fabiola, Fischer, Utz, Yeo, Nan Cher, Hans-Jürgen Kreienkamp, and Lessel, Davor
Abstract: Additional file 1. Supplementary methods.
Published: 2021
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64. Additional file 7 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Author: Mannucci, Ilaria, Dang, Nghi D. P., Huber, Hannes, Murry, Jaclyn B., Abramson, Jeff, Althoff, Thorsten, Siddharth Banka, Baynam, Gareth, Bearden, David, Beleza-Meireles, Ana, Benke, Paul J., Siren Berland, Bierhals, Tatjana, Bilan, Frederic, Bindoff, Laurence A., Braathen, Geir Julius, Busk, Øyvind L., Jirat Chenbhanich, Denecke, Jonas, Escobar, Luis F., Estes, Caroline, Fleischer, Julie, Groepper, Daniel, Haaxma, Charlotte A., Hempel, Maja, Holler-Managan, Yolanda, Houge, Gunnar, Jackson, Adam, Kellogg, Laura, Keren, Boris, Kiraly-Borri, Catherine, Kraus, Cornelia, Kubisch, Christian, Guyader, Gwenael Le, Ljungblad, Ulf W., Brenman, Leslie Manace, Martinez-Agosto, Julian A., Might, Matthew, Miller, David T., Minks, Kelly Q., Moghaddam, Billur, Nava, Caroline, Nelson, Stanley F., Parant, John M., Prescott, Trine, Rajabi, Farrah, Hanitra Randrianaivo, Reiter, Simone F., Schuurs-Hoeijmakers, Janneke, Shieh, Perry B., Slavotinek, Anne, Smithson, Sarah, Stegmann, Alexander P. A., Tomczak, Kinga, Tveten, Kristian, Wang, Jun, Whitlock, Jordan H., Zweier, Christiane, McWalter, Kirsty, Juusola, Jane, Quintero-Rivera, Fabiola, Fischer, Utz, Yeo, Nan Cher, Hans-Jürgen Kreienkamp, and Lessel, Davor
Abstract: Additional file 7: Figure S4. DHX30 WT acts as an ATP-dependent RNA helicase.
Published: 2021
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65. Additional file 3 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Author: Mannucci, Ilaria, Dang, Nghi D. P., Huber, Hannes, Murry, Jaclyn B., Abramson, Jeff, Althoff, Thorsten, Siddharth Banka, Baynam, Gareth, Bearden, David, Beleza-Meireles, Ana, Benke, Paul J., Siren Berland, Bierhals, Tatjana, Bilan, Frederic, Bindoff, Laurence A., Braathen, Geir Julius, Busk, Øyvind L., Jirat Chenbhanich, Denecke, Jonas, Escobar, Luis F., Estes, Caroline, Fleischer, Julie, Groepper, Daniel, Haaxma, Charlotte A., Hempel, Maja, Holler-Managan, Yolanda, Houge, Gunnar, Jackson, Adam, Kellogg, Laura, Keren, Boris, Kiraly-Borri, Catherine, Kraus, Cornelia, Kubisch, Christian, Guyader, Gwenael Le, Ljungblad, Ulf W., Brenman, Leslie Manace, Martinez-Agosto, Julian A., Might, Matthew, Miller, David T., Minks, Kelly Q., Moghaddam, Billur, Nava, Caroline, Nelson, Stanley F., Parant, John M., Prescott, Trine, Rajabi, Farrah, Hanitra Randrianaivo, Reiter, Simone F., Schuurs-Hoeijmakers, Janneke, Shieh, Perry B., Slavotinek, Anne, Smithson, Sarah, Stegmann, Alexander P. A., Tomczak, Kinga, Tveten, Kristian, Wang, Jun, Whitlock, Jordan H., Zweier, Christiane, McWalter, Kirsty, Juusola, Jane, Quintero-Rivera, Fabiola, Fischer, Utz, Yeo, Nan Cher, Hans-Jürgen Kreienkamp, and Lessel, Davor
Abstract: Additional file 3: Figure S1. Identified missense variants affect highly conserved amino acids.
Published: 2021
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66. Additional file 9 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Author: Mannucci, Ilaria, Dang, Nghi D. P., Huber, Hannes, Murry, Jaclyn B., Abramson, Jeff, Althoff, Thorsten, Siddharth Banka, Baynam, Gareth, Bearden, David, Beleza-Meireles, Ana, Benke, Paul J., Siren Berland, Bierhals, Tatjana, Bilan, Frederic, Bindoff, Laurence A., Braathen, Geir Julius, Busk, Øyvind L., Jirat Chenbhanich, Denecke, Jonas, Escobar, Luis F., Estes, Caroline, Fleischer, Julie, Groepper, Daniel, Haaxma, Charlotte A., Hempel, Maja, Holler-Managan, Yolanda, Houge, Gunnar, Jackson, Adam, Kellogg, Laura, Keren, Boris, Kiraly-Borri, Catherine, Kraus, Cornelia, Kubisch, Christian, Guyader, Gwenael Le, Ljungblad, Ulf W., Brenman, Leslie Manace, Martinez-Agosto, Julian A., Might, Matthew, Miller, David T., Minks, Kelly Q., Moghaddam, Billur, Nava, Caroline, Nelson, Stanley F., Parant, John M., Prescott, Trine, Rajabi, Farrah, Hanitra Randrianaivo, Reiter, Simone F., Schuurs-Hoeijmakers, Janneke, Shieh, Perry B., Slavotinek, Anne, Smithson, Sarah, Stegmann, Alexander P. A., Tomczak, Kinga, Tveten, Kristian, Wang, Jun, Whitlock, Jordan H., Zweier, Christiane, McWalter, Kirsty, Juusola, Jane, Quintero-Rivera, Fabiola, Fischer, Utz, Yeo, Nan Cher, Hans-Jürgen Kreienkamp, and Lessel, Davor
Subjects: animal structures, fungi, embryonic structures
Abstract: Additional file 9: Figure S6. Representative images of zebrafish embryos.
Published: 2021
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67. Hyperprolinemia

Author: Reulecke, Bettina C., Denecke, Jonas, and Lang, Florian, editor
Published: 2009
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68. Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

Author: Chopra, Maya, primary, McEntagart, Meriel, additional, Clayton-Smith, Jill, additional, Platzer, Konrad, additional, Shukla, Anju, additional, Girisha, Katta M., additional, Kaur, Anupriya, additional, Kaur, Parneet, additional, Pfundt, Rolph, additional, Veenstra-Knol, Hermine, additional, Mancini, Grazia M.S., additional, Cappuccio, Gerarda, additional, Brunetti-Pierri, Nicola, additional, Kortüm, Fanny, additional, Hempel, Maja, additional, Denecke, Jonas, additional, Lehman, Anna, additional, Kleefstra, Tjitske, additional, Stuurman, Kyra E., additional, Wilke, Martina, additional, Thompson, Michelle L., additional, Bebin, E. Martina, additional, Bijlsma, Emilia K., additional, Hoffer, Mariette J.V., additional, Peeters-Scholte, Cacha, additional, Slavotinek, Anne, additional, Weiss, William A., additional, Yip, Tiffany, additional, Hodoglugil, Ugur, additional, Whittle, Amy, additional, diMonda, Janette, additional, Neira, Juanita, additional, Yang, Sandra, additional, Kirby, Amelia, additional, Pinz, Hailey, additional, Lechner, Rosan, additional, Sleutels, Frank, additional, Helbig, Ingo, additional, McKeown, Sarah, additional, Helbig, Katherine, additional, Willaert, Rebecca, additional, Juusola, Jane, additional, Semotok, Jennifer, additional, Hadonou, Medard, additional, Short, John, additional, Yachelevich, Naomi, additional, Lala, Sajel, additional, Fernández-Jaen, Alberto, additional, Pelayo, Janvier Porta, additional, Klöckner, Chiara, additional, Kamphausen, Susanne B., additional, Abou Jamra, Rami, additional, Arelin, Maria, additional, Innes, A. Micheil, additional, Niskakoski, Anni, additional, Amin, Sam, additional, Williams, Maggie, additional, Evans, Julie, additional, Smithson, Sarah, additional, Smedley, Damian, additional, de Burca, Anna, additional, Kini, Usha, additional, Delatycki, Martin B., additional, Gallacher, Lyndon, additional, Yeung, Alison, additional, Pais, Lynn, additional, Field, Michael, additional, Martin, Ellenore, additional, Charles, Perrine, additional, Courtin, Thomas, additional, Keren, Boris, additional, Iascone, Maria, additional, Cereda, Anna, additional, Poke, Gemma, additional, Abadie, Véronique, additional, Chalouhi, Christel, additional, Parthasarathy, Padmini, additional, Halliday, Benjamin J., additional, Robertson, Stephen P., additional, Lyonnet, Stanislas, additional, Amiel, Jeanne, additional, and Gordon, Christopher T., additional
Published: 2021
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69. Characterization of the N-glycosylation phenotype of erythrocyte membrane proteins in congenital dyserythropoietic anemia type II (CDA II/HEMPAS)

Author: Denecke, Jonas, Kranz, Christian, Nimtz, Manfred, Conradt, Harald S., Brune, Thomas, Heimpel, Hermann, and Marquardt, Thorsten
Published: 2008
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70. Additional file 1 of Evaluation of two family-based intervention programs for children affected by rare disease and their families – research network (CARE-FAM-NET): study protocol for a rater-blinded, randomized, controlled, multicenter trial in a 2x2 factorial design

Author: Boettcher, Johannes, Filter, Bonnie, Denecke, Jonas, Hot, Amra, Daubmann, Anne, Zapf, Antonia, Wegscheider, Karl, Zeidler, Jan, J.-Matthias Graf Von Der Schulenburg, Bullinger, Monika, Rassenhofer, Miriam, Schulte-Markwort, Michael, and Wiegand-Grefe, Silke
Subjects: Data_FILES
Abstract: Additional file 1.
Published: 2020
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71. Additional file 2 of Evaluation of two family-based intervention programs for children affected by rare disease and their families – research network (CARE-FAM-NET): study protocol for a rater-blinded, randomized, controlled, multicenter trial in a 2x2 factorial design

Author: Boettcher, Johannes, Filter, Bonnie, Denecke, Jonas, Hot, Amra, Daubmann, Anne, Zapf, Antonia, Wegscheider, Karl, Zeidler, Jan, J.-Matthias Graf Von Der Schulenburg, Bullinger, Monika, Rassenhofer, Miriam, Schulte-Markwort, Michael, and Wiegand-Grefe, Silke
Subjects: Data_FILES
Abstract: Additional file 2.
Published: 2020
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72. Clinical and molecular genetic features of ARC syndrome

Author: Gissen, Paul, Tee, Louise, Johnson, Colin A., Genin, Emmanuelle, Caliebe, Almuth, Chitayat, David, Clericuzio, Carol, Denecke, Jonas, Di Rocco, Maja, Fischler, Björn, FitzPatrick, David, García-Cazorla, Angeles, Guyot, Delphine, Jacquemont, Sebastien, Koletzko, Sibylle, Leheup, Bruno, Mandel, Hanna, Sanseverino, Maria Teresa Vieira, Houwen, Roderick H. J., McKiernan, Patrick J., Kelly, Deirdre A., and Maher, Eamonn R.
Published: 2006
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73. A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy

Author: Kranz, Christian, Jungeblut, Christoph, Denecke, Jonas, Erlekotte, Anne, Sohlbach, Christina, Debus, Volker, Kehl, Hans Gerd, Harms, Erik, Reith, Anna, Reichel, Sonja, Grobe, Helfried, Hammersen, Gerhard, Schwarzer, Ulrich, and Marquardt, Thorsten
Subjects: Phosphates -- Structure, Phosphates -- Research, Metabolic diseases -- Genetic aspects, Metabolic diseases -- Research, Biosynthesis -- Research, Glycosylation -- Research, Biological sciences
Abstract: The discovery of a new inherited metabolic disorder, dolichol kinase (DK1) deficiency that is responsible for the final step of the de novo biosynthesis of dolichol phosphate, is described. The results have shown that two homozygous mutations in the human homologue of the yeast DK1 caused a lethal phenotype, with death in early infancy.
Published: 2007

74. Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

Author: Pediatría, Pediatria, Rice, Gillian I., Park, Sehoon, Gavazzi, Francesco, Adang, Laura A., Ayuk, Loveline A., Van Eyck, Lien, Seabra, Luis, Barrea, Christophe, Battini, Roberta, Belot, Alexandre, Berg, Stefan, Billette de Villemeur, Thierry, Bley, Annette E., Blumkin, Lubov, Boespflug‐Tanguy, Odile, Briggs, Tracy A., Brimble, Elise, Dale, Russell C., Darin, Niklas, Debray, François Guillaume, De Giorgis, Valentina, Denecke, Jonas, Doummar, Diane, Drake af Hagelsrum, Gunilla, Eleftheriou, Despina, Estienne, Margherita, Fazzi, Elisa, Feillet, François, Galli, Jessica, Hartog, Nicholas, Harvengt, Julie, Heron, Bénédicte, Heron, Delphine, Kelly, Diedre A., Lev, Dorit, Levrat, Virginie, Livingston, John H., Martí Carrera, María Itxaso, Mignot, Cyril, Mochel, Fanny, Nougues, Marie Christine, Oppermann, Ilena, Pérez Dueñas, Belén, Popp, Bernt, Rodero, Mathieu P., Rodríguez, Diana, Saletti, Veronica, Sharpe, Cia, Tonduti, Davide, Vadlamani, Gayatri, Van Haren, Keith, Tomás Vila, Miguel, Vogt, Julie, Wassmer, Evangeline, Wiedemann, Arnaud, Wilson, Callum J., Zerem, Ayelet, Zweier, Christiane, Zuberi, Sameer M., Orcesi, Simona, Vanderver, Adeline L., Hur, Sun, Crow, Yanick J., Pediatría, Pediatria, Rice, Gillian I., Park, Sehoon, Gavazzi, Francesco, Adang, Laura A., Ayuk, Loveline A., Van Eyck, Lien, Seabra, Luis, Barrea, Christophe, Battini, Roberta, Belot, Alexandre, Berg, Stefan, Billette de Villemeur, Thierry, Bley, Annette E., Blumkin, Lubov, Boespflug‐Tanguy, Odile, Briggs, Tracy A., Brimble, Elise, Dale, Russell C., Darin, Niklas, Debray, François Guillaume, De Giorgis, Valentina, Denecke, Jonas, Doummar, Diane, Drake af Hagelsrum, Gunilla, Eleftheriou, Despina, Estienne, Margherita, Fazzi, Elisa, Feillet, François, Galli, Jessica, Hartog, Nicholas, Harvengt, Julie, Heron, Bénédicte, Heron, Delphine, Kelly, Diedre A., Lev, Dorit, Levrat, Virginie, Livingston, John H., Martí Carrera, María Itxaso, Mignot, Cyril, Mochel, Fanny, Nougues, Marie Christine, Oppermann, Ilena, Pérez Dueñas, Belén, Popp, Bernt, Rodero, Mathieu P., Rodríguez, Diana, Saletti, Veronica, Sharpe, Cia, Tonduti, Davide, Vadlamani, Gayatri, Van Haren, Keith, Tomás Vila, Miguel, Vogt, Julie, Wassmer, Evangeline, Wiedemann, Arnaud, Wilson, Callum J., Zerem, Ayelet, Zweier, Christiane, Zuberi, Sameer M., Orcesi, Simona, Vanderver, Adeline L., Hur, Sun, and Crow, Yanick J.
Abstract: IFIH1 gain-of-function has been reported as a cause of a type I interferonopathy encompassing a spectrum of autoinflammatory phenotypes including Aicardi-Goutieres syndrome and Singleton Merten syndrome. Ascertaining patients through a European and North American collaboration, we set out to describe the molecular, clinical and interferon status of a cohort of individuals with pathogenic heterozygous mutations in IFIH1. We identified 74 individuals from 51 families segregating a total of 27 likely pathogenic mutations in IFIH1. Ten adult individuals, 13.5% of all mutation carriers, were clinically asymptomatic (with seven of these aged over 50 years). All mutations were associated with enhanced type I interferon signaling, including six variants (22%) which were predicted as benign according to multiple in silico pathogenicity programs. The identified mutations cluster close to the ATP binding region of the protein. These data confirm variable expression and nonpenetrance as important characteristics of the IFIH1 genotype, a consistent association with enhanced type I interferon signaling, and a common mutational mechanism involving increased RNA binding affinity or decreased efficiency of ATP hydrolysis and filament disassembly rate.
Published: 2020

75. Testing for Hyperhomocysteinemia in Subjects with a History of Thromboembolic Events Using HPLC Technique

Author: Denecke, Jonas, primary
Published: 2013
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76. CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders

Author: El Ghaleb, Yousra, primary, Schneeberger, Pauline E, additional, Fernández-Quintero, Monica L, additional, Geisler, Stefanie M, additional, Pelizzari, Simone, additional, Polstra, Abeltje M, additional, van Hagen, Johanna M, additional, Denecke, Jonas, additional, Campiglio, Marta, additional, Liedl, Klaus R, additional, Stevens, Cathy A, additional, Person, Richard E, additional, Rentas, Stefan, additional, Marsh, Eric D, additional, Conlin, Laura K, additional, Tuluc, Petronel, additional, Kutsche, Kerstin, additional, and Flucher, Bernhard E, additional
Published: 2021
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77. Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II?

Author: Ammer, Luise Sophie, primary, Pohl, Sandra, additional, Breyer, Sandra Rafaela, additional, Aries, Charlotte, additional, Denecke, Jonas, additional, Perez, Anna, additional, Petzoldt, Martin, additional, Schrum, Johanna, additional, Müller, Ingo, additional, and Muschol, Nicole Maria, additional
Published: 2021
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78. Development of the “Hamburg Best Practice Guidelines for ICV−Enzyme Replacement therapy (ERT) in CLN2 Disease” Based on 6 Years Treatment Experience in 48 Patients

Author: Schwering, Christoph, primary, Kammler, Gertrud, additional, Wibbeler, Eva, additional, Christner, Martin, additional, Knobloch, Johannes K.-M., additional, Nickel, Miriam, additional, Denecke, Jonas, additional, Baehr, Michael, additional, and Schulz, Angela, additional
Published: 2021
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79. Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis

Author: Scholz, Tasja, primary, Blohm, Martin Ernst, additional, Kortüm, Fanny, additional, Bierhals, Tatjana, additional, Lessel, Davor, additional, van der Ven, Amelie T., additional, Lisfeld, Jasmin, additional, Herget, Theresia, additional, Kloth, Katja, additional, Singer, Dominique, additional, Perez, Anna, additional, Obi, Nadia, additional, Johannsen, Jessika, additional, Denecke, Jonas, additional, Santer, René, additional, Kubisch, Christian, additional, Deindl, Philipp, additional, and Hempel, Maja, additional
Published: 2021
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80. Congenital disorder of glycosylation Type Ik (CDG-Ik): a defect of mannosyltransferase I

Author: Kranz, Christian, Denecke, Jonas, Lehle, Ludwig, Sohlbach, Kristina, Jeske, Stefanie, Meinhardt, Friedhelm, Rossi, Rainer, Gudowius, Sonja, and Marquardt, Thorsten
Subjects: Biological sciences
Published: 2004

81. Hb Bart’s Hydrops Fetalis

Author: Metze, Dieter, primary, Cury, Vanessa F., additional, Gomez, Ricardo S., additional, Marco, Luiz, additional, Robinson, Dror, additional, Melamed, Eitan, additional, Leung, Alexander K. C., additional, Nam, Jae-Hwan, additional, Matsubara, Yoichi, additional, Tada, Keiya, additional, Sancak, Seda, additional, Paschke, Ralf, additional, Kupka, Susan, additional, Plontke, Stefan K., additional, Zenner, Hans-Peter, additional, Azhar, Gohar, additional, Wei, Jeanne Y., additional, Kang, Y. James, additional, Yoshizawa, Katsuhiko, additional, Nyska, Abraham, additional, Jones, Graeme, additional, Triantafilou, Kathy, additional, Lepper, Philipp M., additional, Bode, Johannes G., additional, Kashtan, Clifford E., additional, Schümann, Klaus, additional, Weiss, Günter, additional, Skerka, Christine, additional, Licht, Christoph, additional, Zipfel, Peter F., additional, Cate, Hugo ten, additional, Oette, Mark, additional, Häussinger, Dieter, additional, Ruel, Isabelle L., additional, Couture, Patrick, additional, Lamarche, Benoît, additional, Siegmund, Sören V., additional, Haas, Stephan L., additional, Singer, Manfred V., additional, Heintges, Tobias, additional, Kubitz, Ralf, additional, Erhardt, Andreas, additional, Lammert, Frank, additional, Lorenzen, Johann, additional, Blum, Hubert E., additional, Moradpour, Darius, additional, Merker, Georg, additional, Wettstein, Matthias, additional, Guevara, Mónica, additional, Ginès, Pere, additional, Cate, Hugo Ten, additional, Heininger, Ulrich, additional, Pfister, Markus, additional, Schmitt, Marcus, additional, Schinkel, Arend F. L., additional, Poldermans, Don, additional, Bax, Jeroen J., additional, Mairbäurl, Heimo, additional, Bärtsch, Peter, additional, Merker, Georg H., additional, Chiu, Percy, additional, Legro, Richard S., additional, Nyhan, William L., additional, Dave, Sandeep S., additional, Kohlhase, Jürgen, additional, Dielis, Arne W. J. H., additional, Mudd, S. Harvey, additional, Simon, Christian, additional, Schildgen, Oliver, additional, Sternak, Suncanica Ljubin, additional, Mlinaric-Galinovic, Gordana, additional, Stockfleth, Eggert, additional, Nindl, Ingo, additional, Zerr, Inga, additional, Bähr, Mathias, additional, Stankus, Nicole, additional, Lindenberg, Katrin S., additional, Landwehrmeyer, G. Bernhard, additional, Denecke, Jonas, additional, Katsuragi, Shoichi, additional, Grimbacher, Bodo, additional, Woellner, Cristina, additional, Holland, Steven, additional, Koch, Christian A., additional, Geraghty, Michael T., additional, Jansen, Peter L. M., additional, Whitehead, Robert P., additional, Brown, Edward M., additional, Bai, Mei, additional, Martin, T. John, additional, Escribano, Joaquin, additional, Garca Nieto, Victor M., additional, Ma, Patrick TS, additional, Ma, Lucia K, additional, Leung, Alexander K. C, additional, Hahn, Angelika F., additional, Nallegowda, Mallikarjuna, additional, Singh, Upinderpal, additional, Umapathi, Mangajji R., additional, Kumar, Rakesh, additional, Badolato, Raffaele, additional, Glaser, Benjamin, additional, Schreiber, Ruth, additional, Landau, Daniel, additional, Oh, Goo Taeg, additional, Kallen, Carla, additional, Topf, Joel Michels, additional, Murray, Patrick, additional, Tejedor, Jaime, additional, Varshney, Manish Kumar, additional, Suphapeetiporn, Kanya, additional, Shotelersuk, Vorasuk, additional, Hoppe, Bernd, additional, Hesse, Albrecht, additional, Hendy, Geoffrey N., additional, Cole, David E. C., additional, Nolan, Charles R., additional, Shintaku, Haruo, additional, Ichinose, Hiroshi, additional, Mankin, Henry J., additional, Uwaifo, Gabriel I., additional, Reulecke, Bettina C., additional, Heppt, Werner, additional, Cryer, Annette, additional, Tomic, Rade, additional, Roman, Jesse, additional, Rémi, Jan, additional, Noachtar, Soheyl, additional, Nagase, Miki, additional, Fujita, Toshiro, additional, Cogolludo, Angel, additional, Yuan, Jason X.-J., additional, Rubin, Lewis J., additional, Davis, Manning R., additional, Poduval, T. Balakrishna, additional, Chatterjee, Saurabh, additional, Gozu, Hulya Iliksu, additional, Eszlinger, Markus, additional, Bircan, Rifat, additional, Lüblinghoff, Julia, additional, Lüblighoff, Julia, additional, Pfäffle, Roland, additional, Zhao, Shui-Ping, additional, Ye, Hui-Jun, additional, Mogensen, Jens, additional, Kebudi, Rejin, additional, Saglam, Sezer, additional, Becker, Michael A., additional, Asplin, John R., additional, Gotshall, Robert W., additional, Scharnagl, Hubert, additional, März, Winfried, additional, Sayer, John A., additional, Pearce, Simon H., additional, Paparello, James J., additional, Klemmer, Philip J., additional, Kshirsagar, Abhijit V., additional, Ma, Patrick T. S., additional, Ma, Lucia K., additional, Castori, Marco, additional, Siener, Roswitha, additional, Habermehl, Pirmin, additional, Knuf, Markus, additional, Michalski, Christoph, additional, Kleeff, Jörg, additional, Richter-Unruh, Annette, additional, Headon, Denis J., additional, Overbeek, Paul A., additional, Bree, Alanna F., additional, Belge, Hendrica, additional, Riveira-Munoz, Eva, additional, Devuyst, Olivier, additional, Weber, Stefanie, additional, Moritz, Michael L., additional, Ayus, Juan Carlos, additional, Pearce, Simon H. S., additional, Whyte, Michael P., additional, Fukagawa, Masafumi, additional, Tanaka, Motoko, additional, Tenenhouse, Harriet S., additional, Gutenberg, Angelika, additional, Caturegli, Patrizio, additional, Oswalt, Christy T., additional, Eghtesady, Pirooz, additional, Suneja, Manish, additional, Thomas, Christie P., additional, Sasaki, Hirokazu, additional, Yukioka, Tetsuo, additional, Van Steensel, Maurice A. M., additional, Wu, Rongqian, additional, Wang, Ping, additional, Feuerstein, Giora, additional, Ruffolo, Robert, additional, Jinnah, Hyder A., additional, Harris, James C., additional, Eltzschig, Holger K., additional, and Grenz, Almut, additional
Published: 2009
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82. Hippocratic Fingers

Author: Metze, Dieter, primary, Cury, Vanessa F., additional, Gomez, Ricardo S., additional, Marco, Luiz, additional, Robinson, Dror, additional, Melamed, Eitan, additional, Leung, Alexander K. C., additional, Nam, Jae-Hwan, additional, Matsubara, Yoichi, additional, Tada, Keiya, additional, Sancak, Seda, additional, Paschke, Ralf, additional, Kupka, Susan, additional, Plontke, Stefan K., additional, Zenner, Hans-Peter, additional, Azhar, Gohar, additional, Wei, Jeanne Y., additional, Kang, Y. James, additional, Yoshizawa, Katsuhiko, additional, Nyska, Abraham, additional, Jones, Graeme, additional, Triantafilou, Kathy, additional, Lepper, Philipp M., additional, Bode, Johannes G., additional, Kashtan, Clifford E., additional, Schümann, Klaus, additional, Weiss, Günter, additional, Skerka, Christine, additional, Licht, Christoph, additional, Zipfel, Peter F., additional, Cate, Hugo ten, additional, Oette, Mark, additional, Häussinger, Dieter, additional, Ruel, Isabelle L., additional, Couture, Patrick, additional, Lamarche, Benoît, additional, Siegmund, Sören V., additional, Haas, Stephan L., additional, Singer, Manfred V., additional, Heintges, Tobias, additional, Kubitz, Ralf, additional, Erhardt, Andreas, additional, Lammert, Frank, additional, Lorenzen, Johann, additional, Blum, Hubert E., additional, Moradpour, Darius, additional, Merker, Georg, additional, Wettstein, Matthias, additional, Guevara, Mónica, additional, Ginès, Pere, additional, Cate, Hugo Ten, additional, Heininger, Ulrich, additional, Pfister, Markus, additional, Schmitt, Marcus, additional, Schinkel, Arend F. L., additional, Poldermans, Don, additional, Bax, Jeroen J., additional, Mairbäurl, Heimo, additional, Bärtsch, Peter, additional, Merker, Georg H., additional, Chiu, Percy, additional, Legro, Richard S., additional, Nyhan, William L., additional, Dave, Sandeep S., additional, Kohlhase, Jürgen, additional, Dielis, Arne W. J. H., additional, Mudd, S. Harvey, additional, Simon, Christian, additional, Schildgen, Oliver, additional, Sternak, Suncanica Ljubin, additional, Mlinaric-Galinovic, Gordana, additional, Stockfleth, Eggert, additional, Nindl, Ingo, additional, Zerr, Inga, additional, Bähr, Mathias, additional, Stankus, Nicole, additional, Lindenberg, Katrin S., additional, Landwehrmeyer, G. Bernhard, additional, Denecke, Jonas, additional, Katsuragi, Shoichi, additional, Grimbacher, Bodo, additional, Woellner, Cristina, additional, Holland, Steven, additional, Koch, Christian A., additional, Geraghty, Michael T., additional, Jansen, Peter L. M., additional, Whitehead, Robert P., additional, Brown, Edward M., additional, Bai, Mei, additional, Martin, T. John, additional, Escribano, Joaquin, additional, Garca Nieto, Victor M., additional, Ma, Patrick TS, additional, Ma, Lucia K, additional, Leung, Alexander K. C, additional, Hahn, Angelika F., additional, Nallegowda, Mallikarjuna, additional, Singh, Upinderpal, additional, Umapathi, Mangajji R., additional, Kumar, Rakesh, additional, Badolato, Raffaele, additional, Glaser, Benjamin, additional, Schreiber, Ruth, additional, Landau, Daniel, additional, Oh, Goo Taeg, additional, Kallen, Carla, additional, Topf, Joel Michels, additional, Murray, Patrick, additional, Tejedor, Jaime, additional, Varshney, Manish Kumar, additional, Suphapeetiporn, Kanya, additional, Shotelersuk, Vorasuk, additional, Hoppe, Bernd, additional, Hesse, Albrecht, additional, Hendy, Geoffrey N., additional, Cole, David E. C., additional, Nolan, Charles R., additional, Shintaku, Haruo, additional, Ichinose, Hiroshi, additional, Mankin, Henry J., additional, Uwaifo, Gabriel I., additional, Reulecke, Bettina C., additional, Heppt, Werner, additional, Cryer, Annette, additional, Tomic, Rade, additional, Roman, Jesse, additional, Rémi, Jan, additional, Noachtar, Soheyl, additional, Nagase, Miki, additional, Fujita, Toshiro, additional, Cogolludo, Angel, additional, Yuan, Jason X.-J., additional, Rubin, Lewis J., additional, Davis, Manning R., additional, Poduval, T. Balakrishna, additional, Chatterjee, Saurabh, additional, Gozu, Hulya Iliksu, additional, Eszlinger, Markus, additional, Bircan, Rifat, additional, Lüblinghoff, Julia, additional, Lüblighoff, Julia, additional, Pfäffle, Roland, additional, Zhao, Shui-Ping, additional, Ye, Hui-Jun, additional, Mogensen, Jens, additional, Kebudi, Rejin, additional, Saglam, Sezer, additional, Becker, Michael A., additional, Asplin, John R., additional, Gotshall, Robert W., additional, Scharnagl, Hubert, additional, März, Winfried, additional, Sayer, John A., additional, Pearce, Simon H., additional, Paparello, James J., additional, Klemmer, Philip J., additional, Kshirsagar, Abhijit V., additional, Ma, Patrick T. S., additional, Ma, Lucia K., additional, Castori, Marco, additional, Siener, Roswitha, additional, Habermehl, Pirmin, additional, Knuf, Markus, additional, Michalski, Christoph, additional, Kleeff, Jörg, additional, Richter-Unruh, Annette, additional, Headon, Denis J., additional, Overbeek, Paul A., additional, Bree, Alanna F., additional, Belge, Hendrica, additional, Riveira-Munoz, Eva, additional, Devuyst, Olivier, additional, Weber, Stefanie, additional, Moritz, Michael L., additional, Ayus, Juan Carlos, additional, Pearce, Simon H. S., additional, Whyte, Michael P., additional, Fukagawa, Masafumi, additional, Tanaka, Motoko, additional, Tenenhouse, Harriet S., additional, Gutenberg, Angelika, additional, Caturegli, Patrizio, additional, Oswalt, Christy T., additional, Eghtesady, Pirooz, additional, Suneja, Manish, additional, Thomas, Christie P., additional, Sasaki, Hirokazu, additional, Yukioka, Tetsuo, additional, Van Steensel, Maurice A. M., additional, Wu, Rongqian, additional, Wang, Ping, additional, Feuerstein, Giora, additional, Ruffolo, Robert, additional, Jinnah, Hyder A., additional, Harris, James C., additional, Eltzschig, Holger K., additional, and Grenz, Almut, additional
Published: 2009
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83. GDM

Author: Timson, David J., primary, Reece, Richard J., additional, Thoden, James B., additional, Holden, Hazel M., additional, L. Utz, Andrea, additional, Biller, Beverly M. K., additional, Strehle, Eugen-Matthias, additional, Böhm, Markus, additional, Luger, Thomas A., additional, Leung, Alexander K. C., additional, Wong, Andrew L., additional, Donner, Markus G., additional, Häussinger, Dieter, additional, Mann, Nirmal S., additional, Schmitt, Marcus, additional, Robson, William Lane M., additional, Balwani, Manisha, additional, Prakash-Cheng*, Ainu, additional, Desnick, Robert J., additional, Lerche, Holger, additional, Scheffer, Ingrid E., additional, Berkovic, Samuel F., additional, Lobnig, Brigitte M., additional, Jansen, Peter L. M., additional, Waldegger, Siegfried, additional, Lang, Florian, additional, Cate, Hugo ten, additional, Thieme, Hagen, additional, Weller, Michael, additional, Schütte, Bärbel, additional, Fass, Ronnie, additional, Kato, Hideki, additional, Nangaku, Masaomi, additional, Chang, Anthony, additional, Kadambi, Pradeep V., additional, Alexander, Jessy J., additional, Ronco, Pierre, additional, Debiec, Hanna, additional, Hugo, Christian, additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Francis, Jean, additional, Geller, David S., additional, Brockmann, Knut, additional, Wang, Dong, additional, Vivo, Darryl C., additional, Kölker, Stefan, additional, Erasmus, Elardus, additional, Mienie, Lodewyk J., additional, Vissing, John, additional, Reuser, Arnold, additional, Correia, Catherine E., additional, Weinstein, David A., additional, Wolfsdorf, Joseph I., additional, Shin, Yoon S., additional, Hesselink, Reinout P., additional, Drost, Maarten R., additional, Wagenmakers, Anton J. M., additional, Vusse, Ger J., additional, Kiechl, Stefan, additional, Denecke, Jonas, additional, Schepers, Ute, additional, Kolter, Thomas, additional, Sandhoff, Konrad, additional, Martin, Dianna C., additional, Triggs-Raine, Barbara L., additional, Sancak, Seda, additional, Paschke, Ralf, additional, Borza, Dorin-Bogdan, additional, Ständer, Sonja, additional, Traupe, Heiko, additional, Becker, Michael A., additional, Straaten, Hanneke M., additional, Verdonck, Leo F., additional, Cate, Hugo Ten, additional, Mempel, Martin, additional, Abeck, Dietrich, additional, Ghanem, Ismat, additional, Hage, Samer El, additional, Bode, Johannes G., additional, Fleisher, Thomas A., additional, Holland, Steven M., additional, Myers, Bennett, additional, Herrmann, David, additional, Kraiem, Zaki, additional, Tomer, Yaron, additional, Davies, Terry F., additional, White, James G., additional, Stöckler-Ipsiroglu, Sylvia, additional, Stoll, Guido, additional, Toyka, Klaus V., additional, Lamounier-Zepter, Valéria, additional, and Ruether, Klaus, additional
Published: 2009
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84. Hyperekplexia, Hereditary

Author: Metze, Dieter, primary, Cury, Vanessa F., additional, Gomez, Ricardo S., additional, Marco, Luiz, additional, Robinson, Dror, additional, Melamed, Eitan, additional, Leung, Alexander K. C., additional, Nam, Jae-Hwan, additional, Matsubara, Yoichi, additional, Tada, Keiya, additional, Sancak, Seda, additional, Paschke, Ralf, additional, Kupka, Susan, additional, Plontke, Stefan K., additional, Zenner, Hans-Peter, additional, Azhar, Gohar, additional, Wei, Jeanne Y., additional, Kang, Y. James, additional, Yoshizawa, Katsuhiko, additional, Nyska, Abraham, additional, Jones, Graeme, additional, Triantafilou, Kathy, additional, Lepper, Philipp M., additional, Bode, Johannes G., additional, Kashtan, Clifford E., additional, Schümann, Klaus, additional, Weiss, Günter, additional, Skerka, Christine, additional, Licht, Christoph, additional, Zipfel, Peter F., additional, Cate, Hugo ten, additional, Oette, Mark, additional, Häussinger, Dieter, additional, Ruel, Isabelle L., additional, Couture, Patrick, additional, Lamarche, Benoît, additional, Siegmund, Sören V., additional, Haas, Stephan L., additional, Singer, Manfred V., additional, Heintges, Tobias, additional, Kubitz, Ralf, additional, Erhardt, Andreas, additional, Lammert, Frank, additional, Lorenzen, Johann, additional, Blum, Hubert E., additional, Moradpour, Darius, additional, Merker, Georg, additional, Wettstein, Matthias, additional, Guevara, Mónica, additional, Ginès, Pere, additional, Cate, Hugo Ten, additional, Heininger, Ulrich, additional, Pfister, Markus, additional, Schmitt, Marcus, additional, Schinkel, Arend F. L., additional, Poldermans, Don, additional, Bax, Jeroen J., additional, Mairbäurl, Heimo, additional, Bärtsch, Peter, additional, Merker, Georg H., additional, Chiu, Percy, additional, Legro, Richard S., additional, Nyhan, William L., additional, Dave, Sandeep S., additional, Kohlhase, Jürgen, additional, Dielis, Arne W. J. H., additional, Mudd, S. Harvey, additional, Simon, Christian, additional, Schildgen, Oliver, additional, Sternak, Suncanica Ljubin, additional, Mlinaric-Galinovic, Gordana, additional, Stockfleth, Eggert, additional, Nindl, Ingo, additional, Zerr, Inga, additional, Bähr, Mathias, additional, Stankus, Nicole, additional, Lindenberg, Katrin S., additional, Landwehrmeyer, G. Bernhard, additional, Denecke, Jonas, additional, Katsuragi, Shoichi, additional, Grimbacher, Bodo, additional, Woellner, Cristina, additional, Holland, Steven, additional, Koch, Christian A., additional, Geraghty, Michael T., additional, Jansen, Peter L. M., additional, Whitehead, Robert P., additional, Brown, Edward M., additional, Bai, Mei, additional, Martin, T. John, additional, Escribano, Joaquin, additional, Garca Nieto, Victor M., additional, Ma, Patrick TS, additional, Ma, Lucia K, additional, Leung, Alexander K. C, additional, Hahn, Angelika F., additional, Nallegowda, Mallikarjuna, additional, Singh, Upinderpal, additional, Umapathi, Mangajji R., additional, Kumar, Rakesh, additional, Badolato, Raffaele, additional, Glaser, Benjamin, additional, Schreiber, Ruth, additional, Landau, Daniel, additional, Oh, Goo Taeg, additional, Kallen, Carla, additional, Topf, Joel Michels, additional, Murray, Patrick, additional, Tejedor, Jaime, additional, Varshney, Manish Kumar, additional, Suphapeetiporn, Kanya, additional, Shotelersuk, Vorasuk, additional, Hoppe, Bernd, additional, Hesse, Albrecht, additional, Hendy, Geoffrey N., additional, Cole, David E. C., additional, Nolan, Charles R., additional, Shintaku, Haruo, additional, Ichinose, Hiroshi, additional, Mankin, Henry J., additional, Uwaifo, Gabriel I., additional, Reulecke, Bettina C., additional, Heppt, Werner, additional, Cryer, Annette, additional, Tomic, Rade, additional, Roman, Jesse, additional, Rémi, Jan, additional, Noachtar, Soheyl, additional, Nagase, Miki, additional, Fujita, Toshiro, additional, Cogolludo, Angel, additional, Yuan, Jason X.-J., additional, Rubin, Lewis J., additional, Davis, Manning R., additional, Poduval, T. Balakrishna, additional, Chatterjee, Saurabh, additional, Gozu, Hulya Iliksu, additional, Eszlinger, Markus, additional, Bircan, Rifat, additional, Lüblinghoff, Julia, additional, Lüblighoff, Julia, additional, Pfäffle, Roland, additional, Zhao, Shui-Ping, additional, Ye, Hui-Jun, additional, Mogensen, Jens, additional, Kebudi, Rejin, additional, Saglam, Sezer, additional, Becker, Michael A., additional, Asplin, John R., additional, Gotshall, Robert W., additional, Scharnagl, Hubert, additional, März, Winfried, additional, Sayer, John A., additional, Pearce, Simon H., additional, Paparello, James J., additional, Klemmer, Philip J., additional, Kshirsagar, Abhijit V., additional, Ma, Patrick T. S., additional, Ma, Lucia K., additional, Castori, Marco, additional, Siener, Roswitha, additional, Habermehl, Pirmin, additional, Knuf, Markus, additional, Michalski, Christoph, additional, Kleeff, Jörg, additional, Richter-Unruh, Annette, additional, Headon, Denis J., additional, Overbeek, Paul A., additional, Bree, Alanna F., additional, Belge, Hendrica, additional, Riveira-Munoz, Eva, additional, Devuyst, Olivier, additional, Weber, Stefanie, additional, Moritz, Michael L., additional, Ayus, Juan Carlos, additional, Pearce, Simon H. S., additional, Whyte, Michael P., additional, Fukagawa, Masafumi, additional, Tanaka, Motoko, additional, Tenenhouse, Harriet S., additional, Gutenberg, Angelika, additional, Caturegli, Patrizio, additional, Oswalt, Christy T., additional, Eghtesady, Pirooz, additional, Suneja, Manish, additional, Thomas, Christie P., additional, Sasaki, Hirokazu, additional, Yukioka, Tetsuo, additional, Van Steensel, Maurice A. M., additional, Wu, Rongqian, additional, Wang, Ping, additional, Feuerstein, Giora, additional, Ruffolo, Robert, additional, Jinnah, Hyder A., additional, Harris, James C., additional, Eltzschig, Holger K., additional, and Grenz, Almut, additional
Published: 2009
Full Text: View/download PDF

85. Genetic Hemochromatosis

Author: Timson, David J., primary, Reece, Richard J., additional, Thoden, James B., additional, Holden, Hazel M., additional, L. Utz, Andrea, additional, Biller, Beverly M. K., additional, Strehle, Eugen-Matthias, additional, Böhm, Markus, additional, Luger, Thomas A., additional, Leung, Alexander K. C., additional, Wong, Andrew L., additional, Donner, Markus G., additional, Häussinger, Dieter, additional, Mann, Nirmal S., additional, Schmitt, Marcus, additional, Robson, William Lane M., additional, Balwani, Manisha, additional, Prakash-Cheng*, Ainu, additional, Desnick, Robert J., additional, Lerche, Holger, additional, Scheffer, Ingrid E., additional, Berkovic, Samuel F., additional, Lobnig, Brigitte M., additional, Jansen, Peter L. M., additional, Waldegger, Siegfried, additional, Lang, Florian, additional, Cate, Hugo ten, additional, Thieme, Hagen, additional, Weller, Michael, additional, Schütte, Bärbel, additional, Fass, Ronnie, additional, Kato, Hideki, additional, Nangaku, Masaomi, additional, Chang, Anthony, additional, Kadambi, Pradeep V., additional, Alexander, Jessy J., additional, Ronco, Pierre, additional, Debiec, Hanna, additional, Hugo, Christian, additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Francis, Jean, additional, Geller, David S., additional, Brockmann, Knut, additional, Wang, Dong, additional, Vivo, Darryl C., additional, Kölker, Stefan, additional, Erasmus, Elardus, additional, Mienie, Lodewyk J., additional, Vissing, John, additional, Reuser, Arnold, additional, Correia, Catherine E., additional, Weinstein, David A., additional, Wolfsdorf, Joseph I., additional, Shin, Yoon S., additional, Hesselink, Reinout P., additional, Drost, Maarten R., additional, Wagenmakers, Anton J. M., additional, Vusse, Ger J., additional, Kiechl, Stefan, additional, Denecke, Jonas, additional, Schepers, Ute, additional, Kolter, Thomas, additional, Sandhoff, Konrad, additional, Martin, Dianna C., additional, Triggs-Raine, Barbara L., additional, Sancak, Seda, additional, Paschke, Ralf, additional, Borza, Dorin-Bogdan, additional, Ständer, Sonja, additional, Traupe, Heiko, additional, Becker, Michael A., additional, Straaten, Hanneke M., additional, Verdonck, Leo F., additional, Cate, Hugo Ten, additional, Mempel, Martin, additional, Abeck, Dietrich, additional, Ghanem, Ismat, additional, Hage, Samer El, additional, Bode, Johannes G., additional, Fleisher, Thomas A., additional, Holland, Steven M., additional, Myers, Bennett, additional, Herrmann, David, additional, Kraiem, Zaki, additional, Tomer, Yaron, additional, Davies, Terry F., additional, White, James G., additional, Stöckler-Ipsiroglu, Sylvia, additional, Stoll, Guido, additional, Toyka, Klaus V., additional, Lamounier-Zepter, Valéria, additional, and Ruether, Klaus, additional
Published: 2009
Full Text: View/download PDF

86. Glycogen Synthase Deficiency

Author: Timson, David J., primary, Reece, Richard J., additional, Thoden, James B., additional, Holden, Hazel M., additional, L. Utz, Andrea, additional, Biller, Beverly M. K., additional, Strehle, Eugen-Matthias, additional, Böhm, Markus, additional, Luger, Thomas A., additional, Leung, Alexander K. C., additional, Wong, Andrew L., additional, Donner, Markus G., additional, Häussinger, Dieter, additional, Mann, Nirmal S., additional, Schmitt, Marcus, additional, Robson, William Lane M., additional, Balwani, Manisha, additional, Prakash-Cheng*, Ainu, additional, Desnick, Robert J., additional, Lerche, Holger, additional, Scheffer, Ingrid E., additional, Berkovic, Samuel F., additional, Lobnig, Brigitte M., additional, Jansen, Peter L. M., additional, Waldegger, Siegfried, additional, Lang, Florian, additional, Cate, Hugo ten, additional, Thieme, Hagen, additional, Weller, Michael, additional, Schütte, Bärbel, additional, Fass, Ronnie, additional, Kato, Hideki, additional, Nangaku, Masaomi, additional, Chang, Anthony, additional, Kadambi, Pradeep V., additional, Alexander, Jessy J., additional, Ronco, Pierre, additional, Debiec, Hanna, additional, Hugo, Christian, additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Francis, Jean, additional, Geller, David S., additional, Brockmann, Knut, additional, Wang, Dong, additional, Vivo, Darryl C., additional, Kölker, Stefan, additional, Erasmus, Elardus, additional, Mienie, Lodewyk J., additional, Vissing, John, additional, Reuser, Arnold, additional, Correia, Catherine E., additional, Weinstein, David A., additional, Wolfsdorf, Joseph I., additional, Shin, Yoon S., additional, Hesselink, Reinout P., additional, Drost, Maarten R., additional, Wagenmakers, Anton J. M., additional, Vusse, Ger J., additional, Kiechl, Stefan, additional, Denecke, Jonas, additional, Schepers, Ute, additional, Kolter, Thomas, additional, Sandhoff, Konrad, additional, Martin, Dianna C., additional, Triggs-Raine, Barbara L., additional, Sancak, Seda, additional, Paschke, Ralf, additional, Borza, Dorin-Bogdan, additional, Ständer, Sonja, additional, Traupe, Heiko, additional, Becker, Michael A., additional, Straaten, Hanneke M., additional, Verdonck, Leo F., additional, Cate, Hugo Ten, additional, Mempel, Martin, additional, Abeck, Dietrich, additional, Ghanem, Ismat, additional, Hage, Samer El, additional, Bode, Johannes G., additional, Fleisher, Thomas A., additional, Holland, Steven M., additional, Myers, Bennett, additional, Herrmann, David, additional, Kraiem, Zaki, additional, Tomer, Yaron, additional, Davies, Terry F., additional, White, James G., additional, Stöckler-Ipsiroglu, Sylvia, additional, Stoll, Guido, additional, Toyka, Klaus V., additional, Lamounier-Zepter, Valéria, additional, and Ruether, Klaus, additional
Published: 2009
Full Text: View/download PDF

87. Hereditary Hearing Impairment

Author: Metze, Dieter, primary, Cury, Vanessa F., additional, Gomez, Ricardo S., additional, Marco, Luiz, additional, Robinson, Dror, additional, Melamed, Eitan, additional, Leung, Alexander K. C., additional, Nam, Jae-Hwan, additional, Matsubara, Yoichi, additional, Tada, Keiya, additional, Sancak, Seda, additional, Paschke, Ralf, additional, Kupka, Susan, additional, Plontke, Stefan K., additional, Zenner, Hans-Peter, additional, Azhar, Gohar, additional, Wei, Jeanne Y., additional, Kang, Y. James, additional, Yoshizawa, Katsuhiko, additional, Nyska, Abraham, additional, Jones, Graeme, additional, Triantafilou, Kathy, additional, Lepper, Philipp M., additional, Bode, Johannes G., additional, Kashtan, Clifford E., additional, Schümann, Klaus, additional, Weiss, Günter, additional, Skerka, Christine, additional, Licht, Christoph, additional, Zipfel, Peter F., additional, Cate, Hugo ten, additional, Oette, Mark, additional, Häussinger, Dieter, additional, Ruel, Isabelle L., additional, Couture, Patrick, additional, Lamarche, Benoît, additional, Siegmund, Sören V., additional, Haas, Stephan L., additional, Singer, Manfred V., additional, Heintges, Tobias, additional, Kubitz, Ralf, additional, Erhardt, Andreas, additional, Lammert, Frank, additional, Lorenzen, Johann, additional, Blum, Hubert E., additional, Moradpour, Darius, additional, Merker, Georg, additional, Wettstein, Matthias, additional, Guevara, Mónica, additional, Ginès, Pere, additional, Cate, Hugo Ten, additional, Heininger, Ulrich, additional, Pfister, Markus, additional, Schmitt, Marcus, additional, Schinkel, Arend F. L., additional, Poldermans, Don, additional, Bax, Jeroen J., additional, Mairbäurl, Heimo, additional, Bärtsch, Peter, additional, Merker, Georg H., additional, Chiu, Percy, additional, Legro, Richard S., additional, Nyhan, William L., additional, Dave, Sandeep S., additional, Kohlhase, Jürgen, additional, Dielis, Arne W. J. H., additional, Mudd, S. Harvey, additional, Simon, Christian, additional, Schildgen, Oliver, additional, Sternak, Suncanica Ljubin, additional, Mlinaric-Galinovic, Gordana, additional, Stockfleth, Eggert, additional, Nindl, Ingo, additional, Zerr, Inga, additional, Bähr, Mathias, additional, Stankus, Nicole, additional, Lindenberg, Katrin S., additional, Landwehrmeyer, G. Bernhard, additional, Denecke, Jonas, additional, Katsuragi, Shoichi, additional, Grimbacher, Bodo, additional, Woellner, Cristina, additional, Holland, Steven, additional, Koch, Christian A., additional, Geraghty, Michael T., additional, Jansen, Peter L. M., additional, Whitehead, Robert P., additional, Brown, Edward M., additional, Bai, Mei, additional, Martin, T. John, additional, Escribano, Joaquin, additional, Garca Nieto, Victor M., additional, Ma, Patrick TS, additional, Ma, Lucia K, additional, Leung, Alexander K. C, additional, Hahn, Angelika F., additional, Nallegowda, Mallikarjuna, additional, Singh, Upinderpal, additional, Umapathi, Mangajji R., additional, Kumar, Rakesh, additional, Badolato, Raffaele, additional, Glaser, Benjamin, additional, Schreiber, Ruth, additional, Landau, Daniel, additional, Oh, Goo Taeg, additional, Kallen, Carla, additional, Topf, Joel Michels, additional, Murray, Patrick, additional, Tejedor, Jaime, additional, Varshney, Manish Kumar, additional, Suphapeetiporn, Kanya, additional, Shotelersuk, Vorasuk, additional, Hoppe, Bernd, additional, Hesse, Albrecht, additional, Hendy, Geoffrey N., additional, Cole, David E. C., additional, Nolan, Charles R., additional, Shintaku, Haruo, additional, Ichinose, Hiroshi, additional, Mankin, Henry J., additional, Uwaifo, Gabriel I., additional, Reulecke, Bettina C., additional, Heppt, Werner, additional, Cryer, Annette, additional, Tomic, Rade, additional, Roman, Jesse, additional, Rémi, Jan, additional, Noachtar, Soheyl, additional, Nagase, Miki, additional, Fujita, Toshiro, additional, Cogolludo, Angel, additional, Yuan, Jason X.-J., additional, Rubin, Lewis J., additional, Davis, Manning R., additional, Poduval, T. Balakrishna, additional, Chatterjee, Saurabh, additional, Gozu, Hulya Iliksu, additional, Eszlinger, Markus, additional, Bircan, Rifat, additional, Lüblinghoff, Julia, additional, Lüblighoff, Julia, additional, Pfäffle, Roland, additional, Zhao, Shui-Ping, additional, Ye, Hui-Jun, additional, Mogensen, Jens, additional, Kebudi, Rejin, additional, Saglam, Sezer, additional, Becker, Michael A., additional, Asplin, John R., additional, Gotshall, Robert W., additional, Scharnagl, Hubert, additional, März, Winfried, additional, Sayer, John A., additional, Pearce, Simon H., additional, Paparello, James J., additional, Klemmer, Philip J., additional, Kshirsagar, Abhijit V., additional, Ma, Patrick T. S., additional, Ma, Lucia K., additional, Castori, Marco, additional, Siener, Roswitha, additional, Habermehl, Pirmin, additional, Knuf, Markus, additional, Michalski, Christoph, additional, Kleeff, Jörg, additional, Richter-Unruh, Annette, additional, Headon, Denis J., additional, Overbeek, Paul A., additional, Bree, Alanna F., additional, Belge, Hendrica, additional, Riveira-Munoz, Eva, additional, Devuyst, Olivier, additional, Weber, Stefanie, additional, Moritz, Michael L., additional, Ayus, Juan Carlos, additional, Pearce, Simon H. S., additional, Whyte, Michael P., additional, Fukagawa, Masafumi, additional, Tanaka, Motoko, additional, Tenenhouse, Harriet S., additional, Gutenberg, Angelika, additional, Caturegli, Patrizio, additional, Oswalt, Christy T., additional, Eghtesady, Pirooz, additional, Suneja, Manish, additional, Thomas, Christie P., additional, Sasaki, Hirokazu, additional, Yukioka, Tetsuo, additional, Van Steensel, Maurice A. M., additional, Wu, Rongqian, additional, Wang, Ping, additional, Feuerstein, Giora, additional, Ruffolo, Robert, additional, Jinnah, Hyder A., additional, Harris, James C., additional, Eltzschig, Holger K., additional, and Grenz, Almut, additional
Published: 2009
Full Text: View/download PDF

88. Hematochezia

Author: Metze, Dieter, primary, Cury, Vanessa F., additional, Gomez, Ricardo S., additional, Marco, Luiz, additional, Robinson, Dror, additional, Melamed, Eitan, additional, Leung, Alexander K. C., additional, Nam, Jae-Hwan, additional, Matsubara, Yoichi, additional, Tada, Keiya, additional, Sancak, Seda, additional, Paschke, Ralf, additional, Kupka, Susan, additional, Plontke, Stefan K., additional, Zenner, Hans-Peter, additional, Azhar, Gohar, additional, Wei, Jeanne Y., additional, Kang, Y. James, additional, Yoshizawa, Katsuhiko, additional, Nyska, Abraham, additional, Jones, Graeme, additional, Triantafilou, Kathy, additional, Lepper, Philipp M., additional, Bode, Johannes G., additional, Kashtan, Clifford E., additional, Schümann, Klaus, additional, Weiss, Günter, additional, Skerka, Christine, additional, Licht, Christoph, additional, Zipfel, Peter F., additional, Cate, Hugo ten, additional, Oette, Mark, additional, Häussinger, Dieter, additional, Ruel, Isabelle L., additional, Couture, Patrick, additional, Lamarche, Benoît, additional, Siegmund, Sören V., additional, Haas, Stephan L., additional, Singer, Manfred V., additional, Heintges, Tobias, additional, Kubitz, Ralf, additional, Erhardt, Andreas, additional, Lammert, Frank, additional, Lorenzen, Johann, additional, Blum, Hubert E., additional, Moradpour, Darius, additional, Merker, Georg, additional, Wettstein, Matthias, additional, Guevara, Mónica, additional, Ginès, Pere, additional, Cate, Hugo Ten, additional, Heininger, Ulrich, additional, Pfister, Markus, additional, Schmitt, Marcus, additional, Schinkel, Arend F. L., additional, Poldermans, Don, additional, Bax, Jeroen J., additional, Mairbäurl, Heimo, additional, Bärtsch, Peter, additional, Merker, Georg H., additional, Chiu, Percy, additional, Legro, Richard S., additional, Nyhan, William L., additional, Dave, Sandeep S., additional, Kohlhase, Jürgen, additional, Dielis, Arne W. J. H., additional, Mudd, S. Harvey, additional, Simon, Christian, additional, Schildgen, Oliver, additional, Sternak, Suncanica Ljubin, additional, Mlinaric-Galinovic, Gordana, additional, Stockfleth, Eggert, additional, Nindl, Ingo, additional, Zerr, Inga, additional, Bähr, Mathias, additional, Stankus, Nicole, additional, Lindenberg, Katrin S., additional, Landwehrmeyer, G. Bernhard, additional, Denecke, Jonas, additional, Katsuragi, Shoichi, additional, Grimbacher, Bodo, additional, Woellner, Cristina, additional, Holland, Steven, additional, Koch, Christian A., additional, Geraghty, Michael T., additional, Jansen, Peter L. M., additional, Whitehead, Robert P., additional, Brown, Edward M., additional, Bai, Mei, additional, Martin, T. John, additional, Escribano, Joaquin, additional, Garca Nieto, Victor M., additional, Ma, Patrick TS, additional, Ma, Lucia K, additional, Leung, Alexander K. C, additional, Hahn, Angelika F., additional, Nallegowda, Mallikarjuna, additional, Singh, Upinderpal, additional, Umapathi, Mangajji R., additional, Kumar, Rakesh, additional, Badolato, Raffaele, additional, Glaser, Benjamin, additional, Schreiber, Ruth, additional, Landau, Daniel, additional, Oh, Goo Taeg, additional, Kallen, Carla, additional, Topf, Joel Michels, additional, Murray, Patrick, additional, Tejedor, Jaime, additional, Varshney, Manish Kumar, additional, Suphapeetiporn, Kanya, additional, Shotelersuk, Vorasuk, additional, Hoppe, Bernd, additional, Hesse, Albrecht, additional, Hendy, Geoffrey N., additional, Cole, David E. C., additional, Nolan, Charles R., additional, Shintaku, Haruo, additional, Ichinose, Hiroshi, additional, Mankin, Henry J., additional, Uwaifo, Gabriel I., additional, Reulecke, Bettina C., additional, Heppt, Werner, additional, Cryer, Annette, additional, Tomic, Rade, additional, Roman, Jesse, additional, Rémi, Jan, additional, Noachtar, Soheyl, additional, Nagase, Miki, additional, Fujita, Toshiro, additional, Cogolludo, Angel, additional, Yuan, Jason X.-J., additional, Rubin, Lewis J., additional, Davis, Manning R., additional, Poduval, T. Balakrishna, additional, Chatterjee, Saurabh, additional, Gozu, Hulya Iliksu, additional, Eszlinger, Markus, additional, Bircan, Rifat, additional, Lüblinghoff, Julia, additional, Lüblighoff, Julia, additional, Pfäffle, Roland, additional, Zhao, Shui-Ping, additional, Ye, Hui-Jun, additional, Mogensen, Jens, additional, Kebudi, Rejin, additional, Saglam, Sezer, additional, Becker, Michael A., additional, Asplin, John R., additional, Gotshall, Robert W., additional, Scharnagl, Hubert, additional, März, Winfried, additional, Sayer, John A., additional, Pearce, Simon H., additional, Paparello, James J., additional, Klemmer, Philip J., additional, Kshirsagar, Abhijit V., additional, Ma, Patrick T. S., additional, Ma, Lucia K., additional, Castori, Marco, additional, Siener, Roswitha, additional, Habermehl, Pirmin, additional, Knuf, Markus, additional, Michalski, Christoph, additional, Kleeff, Jörg, additional, Richter-Unruh, Annette, additional, Headon, Denis J., additional, Overbeek, Paul A., additional, Bree, Alanna F., additional, Belge, Hendrica, additional, Riveira-Munoz, Eva, additional, Devuyst, Olivier, additional, Weber, Stefanie, additional, Moritz, Michael L., additional, Ayus, Juan Carlos, additional, Pearce, Simon H. S., additional, Whyte, Michael P., additional, Fukagawa, Masafumi, additional, Tanaka, Motoko, additional, Tenenhouse, Harriet S., additional, Gutenberg, Angelika, additional, Caturegli, Patrizio, additional, Oswalt, Christy T., additional, Eghtesady, Pirooz, additional, Suneja, Manish, additional, Thomas, Christie P., additional, Sasaki, Hirokazu, additional, Yukioka, Tetsuo, additional, Van Steensel, Maurice A. M., additional, Wu, Rongqian, additional, Wang, Ping, additional, Feuerstein, Giora, additional, Ruffolo, Robert, additional, Jinnah, Hyder A., additional, Harris, James C., additional, Eltzschig, Holger K., additional, and Grenz, Almut, additional
Published: 2009
Full Text: View/download PDF

89. Graft-Versus-Host Disease

Author: Timson, David J., primary, Reece, Richard J., additional, Thoden, James B., additional, Holden, Hazel M., additional, L. Utz, Andrea, additional, Biller, Beverly M. K., additional, Strehle, Eugen-Matthias, additional, Böhm, Markus, additional, Luger, Thomas A., additional, Leung, Alexander K. C., additional, Wong, Andrew L., additional, Donner, Markus G., additional, Häussinger, Dieter, additional, Mann, Nirmal S., additional, Schmitt, Marcus, additional, Robson, William Lane M., additional, Balwani, Manisha, additional, Prakash-Cheng*, Ainu, additional, Desnick, Robert J., additional, Lerche, Holger, additional, Scheffer, Ingrid E., additional, Berkovic, Samuel F., additional, Lobnig, Brigitte M., additional, Jansen, Peter L. M., additional, Waldegger, Siegfried, additional, Lang, Florian, additional, Cate, Hugo ten, additional, Thieme, Hagen, additional, Weller, Michael, additional, Schütte, Bärbel, additional, Fass, Ronnie, additional, Kato, Hideki, additional, Nangaku, Masaomi, additional, Chang, Anthony, additional, Kadambi, Pradeep V., additional, Alexander, Jessy J., additional, Ronco, Pierre, additional, Debiec, Hanna, additional, Hugo, Christian, additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Francis, Jean, additional, Geller, David S., additional, Brockmann, Knut, additional, Wang, Dong, additional, Vivo, Darryl C., additional, Kölker, Stefan, additional, Erasmus, Elardus, additional, Mienie, Lodewyk J., additional, Vissing, John, additional, Reuser, Arnold, additional, Correia, Catherine E., additional, Weinstein, David A., additional, Wolfsdorf, Joseph I., additional, Shin, Yoon S., additional, Hesselink, Reinout P., additional, Drost, Maarten R., additional, Wagenmakers, Anton J. M., additional, Vusse, Ger J., additional, Kiechl, Stefan, additional, Denecke, Jonas, additional, Schepers, Ute, additional, Kolter, Thomas, additional, Sandhoff, Konrad, additional, Martin, Dianna C., additional, Triggs-Raine, Barbara L., additional, Sancak, Seda, additional, Paschke, Ralf, additional, Borza, Dorin-Bogdan, additional, Ständer, Sonja, additional, Traupe, Heiko, additional, Becker, Michael A., additional, Straaten, Hanneke M., additional, Verdonck, Leo F., additional, Cate, Hugo Ten, additional, Mempel, Martin, additional, Abeck, Dietrich, additional, Ghanem, Ismat, additional, Hage, Samer El, additional, Bode, Johannes G., additional, Fleisher, Thomas A., additional, Holland, Steven M., additional, Myers, Bennett, additional, Herrmann, David, additional, Kraiem, Zaki, additional, Tomer, Yaron, additional, Davies, Terry F., additional, White, James G., additional, Stöckler-Ipsiroglu, Sylvia, additional, Stoll, Guido, additional, Toyka, Klaus V., additional, Lamounier-Zepter, Valéria, additional, and Ruether, Klaus, additional
Published: 2009
Full Text: View/download PDF

90. Holt-Oram Syndrome

Author: Metze, Dieter, primary, Cury, Vanessa F., additional, Gomez, Ricardo S., additional, Marco, Luiz, additional, Robinson, Dror, additional, Melamed, Eitan, additional, Leung, Alexander K. C., additional, Nam, Jae-Hwan, additional, Matsubara, Yoichi, additional, Tada, Keiya, additional, Sancak, Seda, additional, Paschke, Ralf, additional, Kupka, Susan, additional, Plontke, Stefan K., additional, Zenner, Hans-Peter, additional, Azhar, Gohar, additional, Wei, Jeanne Y., additional, Kang, Y. James, additional, Yoshizawa, Katsuhiko, additional, Nyska, Abraham, additional, Jones, Graeme, additional, Triantafilou, Kathy, additional, Lepper, Philipp M., additional, Bode, Johannes G., additional, Kashtan, Clifford E., additional, Schümann, Klaus, additional, Weiss, Günter, additional, Skerka, Christine, additional, Licht, Christoph, additional, Zipfel, Peter F., additional, Cate, Hugo ten, additional, Oette, Mark, additional, Häussinger, Dieter, additional, Ruel, Isabelle L., additional, Couture, Patrick, additional, Lamarche, Benoît, additional, Siegmund, Sören V., additional, Haas, Stephan L., additional, Singer, Manfred V., additional, Heintges, Tobias, additional, Kubitz, Ralf, additional, Erhardt, Andreas, additional, Lammert, Frank, additional, Lorenzen, Johann, additional, Blum, Hubert E., additional, Moradpour, Darius, additional, Merker, Georg, additional, Wettstein, Matthias, additional, Guevara, Mónica, additional, Ginès, Pere, additional, Cate, Hugo Ten, additional, Heininger, Ulrich, additional, Pfister, Markus, additional, Schmitt, Marcus, additional, Schinkel, Arend F. L., additional, Poldermans, Don, additional, Bax, Jeroen J., additional, Mairbäurl, Heimo, additional, Bärtsch, Peter, additional, Merker, Georg H., additional, Chiu, Percy, additional, Legro, Richard S., additional, Nyhan, William L., additional, Dave, Sandeep S., additional, Kohlhase, Jürgen, additional, Dielis, Arne W. J. H., additional, Mudd, S. Harvey, additional, Simon, Christian, additional, Schildgen, Oliver, additional, Sternak, Suncanica Ljubin, additional, Mlinaric-Galinovic, Gordana, additional, Stockfleth, Eggert, additional, Nindl, Ingo, additional, Zerr, Inga, additional, Bähr, Mathias, additional, Stankus, Nicole, additional, Lindenberg, Katrin S., additional, Landwehrmeyer, G. Bernhard, additional, Denecke, Jonas, additional, Katsuragi, Shoichi, additional, Grimbacher, Bodo, additional, Woellner, Cristina, additional, Holland, Steven, additional, Koch, Christian A., additional, Geraghty, Michael T., additional, Jansen, Peter L. M., additional, Whitehead, Robert P., additional, Brown, Edward M., additional, Bai, Mei, additional, Martin, T. John, additional, Escribano, Joaquin, additional, Garca Nieto, Victor M., additional, Ma, Patrick TS, additional, Ma, Lucia K, additional, Leung, Alexander K. C, additional, Hahn, Angelika F., additional, Nallegowda, Mallikarjuna, additional, Singh, Upinderpal, additional, Umapathi, Mangajji R., additional, Kumar, Rakesh, additional, Badolato, Raffaele, additional, Glaser, Benjamin, additional, Schreiber, Ruth, additional, Landau, Daniel, additional, Oh, Goo Taeg, additional, Kallen, Carla, additional, Topf, Joel Michels, additional, Murray, Patrick, additional, Tejedor, Jaime, additional, Varshney, Manish Kumar, additional, Suphapeetiporn, Kanya, additional, Shotelersuk, Vorasuk, additional, Hoppe, Bernd, additional, Hesse, Albrecht, additional, Hendy, Geoffrey N., additional, Cole, David E. C., additional, Nolan, Charles R., additional, Shintaku, Haruo, additional, Ichinose, Hiroshi, additional, Mankin, Henry J., additional, Uwaifo, Gabriel I., additional, Reulecke, Bettina C., additional, Heppt, Werner, additional, Cryer, Annette, additional, Tomic, Rade, additional, Roman, Jesse, additional, Rémi, Jan, additional, Noachtar, Soheyl, additional, Nagase, Miki, additional, Fujita, Toshiro, additional, Cogolludo, Angel, additional, Yuan, Jason X.-J., additional, Rubin, Lewis J., additional, Davis, Manning R., additional, Poduval, T. Balakrishna, additional, Chatterjee, Saurabh, additional, Gozu, Hulya Iliksu, additional, Eszlinger, Markus, additional, Bircan, Rifat, additional, Lüblinghoff, Julia, additional, Lüblighoff, Julia, additional, Pfäffle, Roland, additional, Zhao, Shui-Ping, additional, Ye, Hui-Jun, additional, Mogensen, Jens, additional, Kebudi, Rejin, additional, Saglam, Sezer, additional, Becker, Michael A., additional, Asplin, John R., additional, Gotshall, Robert W., additional, Scharnagl, Hubert, additional, März, Winfried, additional, Sayer, John A., additional, Pearce, Simon H., additional, Paparello, James J., additional, Klemmer, Philip J., additional, Kshirsagar, Abhijit V., additional, Ma, Patrick T. S., additional, Ma, Lucia K., additional, Castori, Marco, additional, Siener, Roswitha, additional, Habermehl, Pirmin, additional, Knuf, Markus, additional, Michalski, Christoph, additional, Kleeff, Jörg, additional, Richter-Unruh, Annette, additional, Headon, Denis J., additional, Overbeek, Paul A., additional, Bree, Alanna F., additional, Belge, Hendrica, additional, Riveira-Munoz, Eva, additional, Devuyst, Olivier, additional, Weber, Stefanie, additional, Moritz, Michael L., additional, Ayus, Juan Carlos, additional, Pearce, Simon H. S., additional, Whyte, Michael P., additional, Fukagawa, Masafumi, additional, Tanaka, Motoko, additional, Tenenhouse, Harriet S., additional, Gutenberg, Angelika, additional, Caturegli, Patrizio, additional, Oswalt, Christy T., additional, Eghtesady, Pirooz, additional, Suneja, Manish, additional, Thomas, Christie P., additional, Sasaki, Hirokazu, additional, Yukioka, Tetsuo, additional, Van Steensel, Maurice A. M., additional, Wu, Rongqian, additional, Wang, Ping, additional, Feuerstein, Giora, additional, Ruffolo, Robert, additional, Jinnah, Hyder A., additional, Harris, James C., additional, Eltzschig, Holger K., additional, and Grenz, Almut, additional
Published: 2009
Full Text: View/download PDF

91. Hypertension and Obesity

Author: Metze, Dieter, primary, Cury, Vanessa F., additional, Gomez, Ricardo S., additional, Marco, Luiz, additional, Robinson, Dror, additional, Melamed, Eitan, additional, Leung, Alexander K. C., additional, Nam, Jae-Hwan, additional, Matsubara, Yoichi, additional, Tada, Keiya, additional, Sancak, Seda, additional, Paschke, Ralf, additional, Kupka, Susan, additional, Plontke, Stefan K., additional, Zenner, Hans-Peter, additional, Azhar, Gohar, additional, Wei, Jeanne Y., additional, Kang, Y. James, additional, Yoshizawa, Katsuhiko, additional, Nyska, Abraham, additional, Jones, Graeme, additional, Triantafilou, Kathy, additional, Lepper, Philipp M., additional, Bode, Johannes G., additional, Kashtan, Clifford E., additional, Schümann, Klaus, additional, Weiss, Günter, additional, Skerka, Christine, additional, Licht, Christoph, additional, Zipfel, Peter F., additional, Cate, Hugo ten, additional, Oette, Mark, additional, Häussinger, Dieter, additional, Ruel, Isabelle L., additional, Couture, Patrick, additional, Lamarche, Benoît, additional, Siegmund, Sören V., additional, Haas, Stephan L., additional, Singer, Manfred V., additional, Heintges, Tobias, additional, Kubitz, Ralf, additional, Erhardt, Andreas, additional, Lammert, Frank, additional, Lorenzen, Johann, additional, Blum, Hubert E., additional, Moradpour, Darius, additional, Merker, Georg, additional, Wettstein, Matthias, additional, Guevara, Mónica, additional, Ginès, Pere, additional, Cate, Hugo Ten, additional, Heininger, Ulrich, additional, Pfister, Markus, additional, Schmitt, Marcus, additional, Schinkel, Arend F. L., additional, Poldermans, Don, additional, Bax, Jeroen J., additional, Mairbäurl, Heimo, additional, Bärtsch, Peter, additional, Merker, Georg H., additional, Chiu, Percy, additional, Legro, Richard S., additional, Nyhan, William L., additional, Dave, Sandeep S., additional, Kohlhase, Jürgen, additional, Dielis, Arne W. J. H., additional, Mudd, S. Harvey, additional, Simon, Christian, additional, Schildgen, Oliver, additional, Sternak, Suncanica Ljubin, additional, Mlinaric-Galinovic, Gordana, additional, Stockfleth, Eggert, additional, Nindl, Ingo, additional, Zerr, Inga, additional, Bähr, Mathias, additional, Stankus, Nicole, additional, Lindenberg, Katrin S., additional, Landwehrmeyer, G. Bernhard, additional, Denecke, Jonas, additional, Katsuragi, Shoichi, additional, Grimbacher, Bodo, additional, Woellner, Cristina, additional, Holland, Steven, additional, Koch, Christian A., additional, Geraghty, Michael T., additional, Jansen, Peter L. M., additional, Whitehead, Robert P., additional, Brown, Edward M., additional, Bai, Mei, additional, Martin, T. John, additional, Escribano, Joaquin, additional, Garca Nieto, Victor M., additional, Ma, Patrick TS, additional, Ma, Lucia K, additional, Leung, Alexander K. C, additional, Hahn, Angelika F., additional, Nallegowda, Mallikarjuna, additional, Singh, Upinderpal, additional, Umapathi, Mangajji R., additional, Kumar, Rakesh, additional, Badolato, Raffaele, additional, Glaser, Benjamin, additional, Schreiber, Ruth, additional, Landau, Daniel, additional, Oh, Goo Taeg, additional, Kallen, Carla, additional, Topf, Joel Michels, additional, Murray, Patrick, additional, Tejedor, Jaime, additional, Varshney, Manish Kumar, additional, Suphapeetiporn, Kanya, additional, Shotelersuk, Vorasuk, additional, Hoppe, Bernd, additional, Hesse, Albrecht, additional, Hendy, Geoffrey N., additional, Cole, David E. C., additional, Nolan, Charles R., additional, Shintaku, Haruo, additional, Ichinose, Hiroshi, additional, Mankin, Henry J., additional, Uwaifo, Gabriel I., additional, Reulecke, Bettina C., additional, Heppt, Werner, additional, Cryer, Annette, additional, Tomic, Rade, additional, Roman, Jesse, additional, Rémi, Jan, additional, Noachtar, Soheyl, additional, Nagase, Miki, additional, Fujita, Toshiro, additional, Cogolludo, Angel, additional, Yuan, Jason X.-J., additional, Rubin, Lewis J., additional, Davis, Manning R., additional, Poduval, T. Balakrishna, additional, Chatterjee, Saurabh, additional, Gozu, Hulya Iliksu, additional, Eszlinger, Markus, additional, Bircan, Rifat, additional, Lüblinghoff, Julia, additional, Lüblighoff, Julia, additional, Pfäffle, Roland, additional, Zhao, Shui-Ping, additional, Ye, Hui-Jun, additional, Mogensen, Jens, additional, Kebudi, Rejin, additional, Saglam, Sezer, additional, Becker, Michael A., additional, Asplin, John R., additional, Gotshall, Robert W., additional, Scharnagl, Hubert, additional, März, Winfried, additional, Sayer, John A., additional, Pearce, Simon H., additional, Paparello, James J., additional, Klemmer, Philip J., additional, Kshirsagar, Abhijit V., additional, Ma, Patrick T. S., additional, Ma, Lucia K., additional, Castori, Marco, additional, Siener, Roswitha, additional, Habermehl, Pirmin, additional, Knuf, Markus, additional, Michalski, Christoph, additional, Kleeff, Jörg, additional, Richter-Unruh, Annette, additional, Headon, Denis J., additional, Overbeek, Paul A., additional, Bree, Alanna F., additional, Belge, Hendrica, additional, Riveira-Munoz, Eva, additional, Devuyst, Olivier, additional, Weber, Stefanie, additional, Moritz, Michael L., additional, Ayus, Juan Carlos, additional, Pearce, Simon H. S., additional, Whyte, Michael P., additional, Fukagawa, Masafumi, additional, Tanaka, Motoko, additional, Tenenhouse, Harriet S., additional, Gutenberg, Angelika, additional, Caturegli, Patrizio, additional, Oswalt, Christy T., additional, Eghtesady, Pirooz, additional, Suneja, Manish, additional, Thomas, Christie P., additional, Sasaki, Hirokazu, additional, Yukioka, Tetsuo, additional, Van Steensel, Maurice A. M., additional, Wu, Rongqian, additional, Wang, Ping, additional, Feuerstein, Giora, additional, Ruffolo, Robert, additional, Jinnah, Hyder A., additional, Harris, James C., additional, Eltzschig, Holger K., additional, and Grenz, Almut, additional
Published: 2009
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92. Glycogenosis Type III

Author: Timson, David J., primary, Reece, Richard J., additional, Thoden, James B., additional, Holden, Hazel M., additional, L. Utz, Andrea, additional, Biller, Beverly M. K., additional, Strehle, Eugen-Matthias, additional, Böhm, Markus, additional, Luger, Thomas A., additional, Leung, Alexander K. C., additional, Wong, Andrew L., additional, Donner, Markus G., additional, Häussinger, Dieter, additional, Mann, Nirmal S., additional, Schmitt, Marcus, additional, Robson, William Lane M., additional, Balwani, Manisha, additional, Prakash-Cheng*, Ainu, additional, Desnick, Robert J., additional, Lerche, Holger, additional, Scheffer, Ingrid E., additional, Berkovic, Samuel F., additional, Lobnig, Brigitte M., additional, Jansen, Peter L. M., additional, Waldegger, Siegfried, additional, Lang, Florian, additional, Cate, Hugo ten, additional, Thieme, Hagen, additional, Weller, Michael, additional, Schütte, Bärbel, additional, Fass, Ronnie, additional, Kato, Hideki, additional, Nangaku, Masaomi, additional, Chang, Anthony, additional, Kadambi, Pradeep V., additional, Alexander, Jessy J., additional, Ronco, Pierre, additional, Debiec, Hanna, additional, Hugo, Christian, additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Francis, Jean, additional, Geller, David S., additional, Brockmann, Knut, additional, Wang, Dong, additional, Vivo, Darryl C., additional, Kölker, Stefan, additional, Erasmus, Elardus, additional, Mienie, Lodewyk J., additional, Vissing, John, additional, Reuser, Arnold, additional, Correia, Catherine E., additional, Weinstein, David A., additional, Wolfsdorf, Joseph I., additional, Shin, Yoon S., additional, Hesselink, Reinout P., additional, Drost, Maarten R., additional, Wagenmakers, Anton J. M., additional, Vusse, Ger J., additional, Kiechl, Stefan, additional, Denecke, Jonas, additional, Schepers, Ute, additional, Kolter, Thomas, additional, Sandhoff, Konrad, additional, Martin, Dianna C., additional, Triggs-Raine, Barbara L., additional, Sancak, Seda, additional, Paschke, Ralf, additional, Borza, Dorin-Bogdan, additional, Ständer, Sonja, additional, Traupe, Heiko, additional, Becker, Michael A., additional, Straaten, Hanneke M., additional, Verdonck, Leo F., additional, Cate, Hugo Ten, additional, Mempel, Martin, additional, Abeck, Dietrich, additional, Ghanem, Ismat, additional, Hage, Samer El, additional, Bode, Johannes G., additional, Fleisher, Thomas A., additional, Holland, Steven M., additional, Myers, Bennett, additional, Herrmann, David, additional, Kraiem, Zaki, additional, Tomer, Yaron, additional, Davies, Terry F., additional, White, James G., additional, Stöckler-Ipsiroglu, Sylvia, additional, Stoll, Guido, additional, Toyka, Klaus V., additional, Lamounier-Zepter, Valéria, additional, and Ruether, Klaus, additional
Published: 2009
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93. Hypokalemic Alkalosis with Hypercalciuria and Deafness

Author: Metze, Dieter, primary, Cury, Vanessa F., additional, Gomez, Ricardo S., additional, Marco, Luiz, additional, Robinson, Dror, additional, Melamed, Eitan, additional, Leung, Alexander K. C., additional, Nam, Jae-Hwan, additional, Matsubara, Yoichi, additional, Tada, Keiya, additional, Sancak, Seda, additional, Paschke, Ralf, additional, Kupka, Susan, additional, Plontke, Stefan K., additional, Zenner, Hans-Peter, additional, Azhar, Gohar, additional, Wei, Jeanne Y., additional, Kang, Y. James, additional, Yoshizawa, Katsuhiko, additional, Nyska, Abraham, additional, Jones, Graeme, additional, Triantafilou, Kathy, additional, Lepper, Philipp M., additional, Bode, Johannes G., additional, Kashtan, Clifford E., additional, Schümann, Klaus, additional, Weiss, Günter, additional, Skerka, Christine, additional, Licht, Christoph, additional, Zipfel, Peter F., additional, Cate, Hugo ten, additional, Oette, Mark, additional, Häussinger, Dieter, additional, Ruel, Isabelle L., additional, Couture, Patrick, additional, Lamarche, Benoît, additional, Siegmund, Sören V., additional, Haas, Stephan L., additional, Singer, Manfred V., additional, Heintges, Tobias, additional, Kubitz, Ralf, additional, Erhardt, Andreas, additional, Lammert, Frank, additional, Lorenzen, Johann, additional, Blum, Hubert E., additional, Moradpour, Darius, additional, Merker, Georg, additional, Wettstein, Matthias, additional, Guevara, Mónica, additional, Ginès, Pere, additional, Cate, Hugo Ten, additional, Heininger, Ulrich, additional, Pfister, Markus, additional, Schmitt, Marcus, additional, Schinkel, Arend F. L., additional, Poldermans, Don, additional, Bax, Jeroen J., additional, Mairbäurl, Heimo, additional, Bärtsch, Peter, additional, Merker, Georg H., additional, Chiu, Percy, additional, Legro, Richard S., additional, Nyhan, William L., additional, Dave, Sandeep S., additional, Kohlhase, Jürgen, additional, Dielis, Arne W. J. H., additional, Mudd, S. Harvey, additional, Simon, Christian, additional, Schildgen, Oliver, additional, Sternak, Suncanica Ljubin, additional, Mlinaric-Galinovic, Gordana, additional, Stockfleth, Eggert, additional, Nindl, Ingo, additional, Zerr, Inga, additional, Bähr, Mathias, additional, Stankus, Nicole, additional, Lindenberg, Katrin S., additional, Landwehrmeyer, G. Bernhard, additional, Denecke, Jonas, additional, Katsuragi, Shoichi, additional, Grimbacher, Bodo, additional, Woellner, Cristina, additional, Holland, Steven, additional, Koch, Christian A., additional, Geraghty, Michael T., additional, Jansen, Peter L. M., additional, Whitehead, Robert P., additional, Brown, Edward M., additional, Bai, Mei, additional, Martin, T. John, additional, Escribano, Joaquin, additional, Garca Nieto, Victor M., additional, Ma, Patrick TS, additional, Ma, Lucia K, additional, Leung, Alexander K. C, additional, Hahn, Angelika F., additional, Nallegowda, Mallikarjuna, additional, Singh, Upinderpal, additional, Umapathi, Mangajji R., additional, Kumar, Rakesh, additional, Badolato, Raffaele, additional, Glaser, Benjamin, additional, Schreiber, Ruth, additional, Landau, Daniel, additional, Oh, Goo Taeg, additional, Kallen, Carla, additional, Topf, Joel Michels, additional, Murray, Patrick, additional, Tejedor, Jaime, additional, Varshney, Manish Kumar, additional, Suphapeetiporn, Kanya, additional, Shotelersuk, Vorasuk, additional, Hoppe, Bernd, additional, Hesse, Albrecht, additional, Hendy, Geoffrey N., additional, Cole, David E. C., additional, Nolan, Charles R., additional, Shintaku, Haruo, additional, Ichinose, Hiroshi, additional, Mankin, Henry J., additional, Uwaifo, Gabriel I., additional, Reulecke, Bettina C., additional, Heppt, Werner, additional, Cryer, Annette, additional, Tomic, Rade, additional, Roman, Jesse, additional, Rémi, Jan, additional, Noachtar, Soheyl, additional, Nagase, Miki, additional, Fujita, Toshiro, additional, Cogolludo, Angel, additional, Yuan, Jason X.-J., additional, Rubin, Lewis J., additional, Davis, Manning R., additional, Poduval, T. Balakrishna, additional, Chatterjee, Saurabh, additional, Gozu, Hulya Iliksu, additional, Eszlinger, Markus, additional, Bircan, Rifat, additional, Lüblinghoff, Julia, additional, Lüblighoff, Julia, additional, Pfäffle, Roland, additional, Zhao, Shui-Ping, additional, Ye, Hui-Jun, additional, Mogensen, Jens, additional, Kebudi, Rejin, additional, Saglam, Sezer, additional, Becker, Michael A., additional, Asplin, John R., additional, Gotshall, Robert W., additional, Scharnagl, Hubert, additional, März, Winfried, additional, Sayer, John A., additional, Pearce, Simon H., additional, Paparello, James J., additional, Klemmer, Philip J., additional, Kshirsagar, Abhijit V., additional, Ma, Patrick T. S., additional, Ma, Lucia K., additional, Castori, Marco, additional, Siener, Roswitha, additional, Habermehl, Pirmin, additional, Knuf, Markus, additional, Michalski, Christoph, additional, Kleeff, Jörg, additional, Richter-Unruh, Annette, additional, Headon, Denis J., additional, Overbeek, Paul A., additional, Bree, Alanna F., additional, Belge, Hendrica, additional, Riveira-Munoz, Eva, additional, Devuyst, Olivier, additional, Weber, Stefanie, additional, Moritz, Michael L., additional, Ayus, Juan Carlos, additional, Pearce, Simon H. S., additional, Whyte, Michael P., additional, Fukagawa, Masafumi, additional, Tanaka, Motoko, additional, Tenenhouse, Harriet S., additional, Gutenberg, Angelika, additional, Caturegli, Patrizio, additional, Oswalt, Christy T., additional, Eghtesady, Pirooz, additional, Suneja, Manish, additional, Thomas, Christie P., additional, Sasaki, Hirokazu, additional, Yukioka, Tetsuo, additional, Van Steensel, Maurice A. M., additional, Wu, Rongqian, additional, Wang, Ping, additional, Feuerstein, Giora, additional, Ruffolo, Robert, additional, Jinnah, Hyder A., additional, Harris, James C., additional, Eltzschig, Holger K., additional, and Grenz, Almut, additional
Published: 2009
Full Text: View/download PDF

94. Hereditary Neuropathy with Liability to Pressure Palsies

Author: Metze, Dieter, primary, Cury, Vanessa F., additional, Gomez, Ricardo S., additional, Marco, Luiz, additional, Robinson, Dror, additional, Melamed, Eitan, additional, Leung, Alexander K. C., additional, Nam, Jae-Hwan, additional, Matsubara, Yoichi, additional, Tada, Keiya, additional, Sancak, Seda, additional, Paschke, Ralf, additional, Kupka, Susan, additional, Plontke, Stefan K., additional, Zenner, Hans-Peter, additional, Azhar, Gohar, additional, Wei, Jeanne Y., additional, Kang, Y. James, additional, Yoshizawa, Katsuhiko, additional, Nyska, Abraham, additional, Jones, Graeme, additional, Triantafilou, Kathy, additional, Lepper, Philipp M., additional, Bode, Johannes G., additional, Kashtan, Clifford E., additional, Schümann, Klaus, additional, Weiss, Günter, additional, Skerka, Christine, additional, Licht, Christoph, additional, Zipfel, Peter F., additional, Cate, Hugo ten, additional, Oette, Mark, additional, Häussinger, Dieter, additional, Ruel, Isabelle L., additional, Couture, Patrick, additional, Lamarche, Benoît, additional, Siegmund, Sören V., additional, Haas, Stephan L., additional, Singer, Manfred V., additional, Heintges, Tobias, additional, Kubitz, Ralf, additional, Erhardt, Andreas, additional, Lammert, Frank, additional, Lorenzen, Johann, additional, Blum, Hubert E., additional, Moradpour, Darius, additional, Merker, Georg, additional, Wettstein, Matthias, additional, Guevara, Mónica, additional, Ginès, Pere, additional, Cate, Hugo Ten, additional, Heininger, Ulrich, additional, Pfister, Markus, additional, Schmitt, Marcus, additional, Schinkel, Arend F. L., additional, Poldermans, Don, additional, Bax, Jeroen J., additional, Mairbäurl, Heimo, additional, Bärtsch, Peter, additional, Merker, Georg H., additional, Chiu, Percy, additional, Legro, Richard S., additional, Nyhan, William L., additional, Dave, Sandeep S., additional, Kohlhase, Jürgen, additional, Dielis, Arne W. J. H., additional, Mudd, S. Harvey, additional, Simon, Christian, additional, Schildgen, Oliver, additional, Sternak, Suncanica Ljubin, additional, Mlinaric-Galinovic, Gordana, additional, Stockfleth, Eggert, additional, Nindl, Ingo, additional, Zerr, Inga, additional, Bähr, Mathias, additional, Stankus, Nicole, additional, Lindenberg, Katrin S., additional, Landwehrmeyer, G. Bernhard, additional, Denecke, Jonas, additional, Katsuragi, Shoichi, additional, Grimbacher, Bodo, additional, Woellner, Cristina, additional, Holland, Steven, additional, Koch, Christian A., additional, Geraghty, Michael T., additional, Jansen, Peter L. M., additional, Whitehead, Robert P., additional, Brown, Edward M., additional, Bai, Mei, additional, Martin, T. John, additional, Escribano, Joaquin, additional, Garca Nieto, Victor M., additional, Ma, Patrick TS, additional, Ma, Lucia K, additional, Leung, Alexander K. C, additional, Hahn, Angelika F., additional, Nallegowda, Mallikarjuna, additional, Singh, Upinderpal, additional, Umapathi, Mangajji R., additional, Kumar, Rakesh, additional, Badolato, Raffaele, additional, Glaser, Benjamin, additional, Schreiber, Ruth, additional, Landau, Daniel, additional, Oh, Goo Taeg, additional, Kallen, Carla, additional, Topf, Joel Michels, additional, Murray, Patrick, additional, Tejedor, Jaime, additional, Varshney, Manish Kumar, additional, Suphapeetiporn, Kanya, additional, Shotelersuk, Vorasuk, additional, Hoppe, Bernd, additional, Hesse, Albrecht, additional, Hendy, Geoffrey N., additional, Cole, David E. C., additional, Nolan, Charles R., additional, Shintaku, Haruo, additional, Ichinose, Hiroshi, additional, Mankin, Henry J., additional, Uwaifo, Gabriel I., additional, Reulecke, Bettina C., additional, Heppt, Werner, additional, Cryer, Annette, additional, Tomic, Rade, additional, Roman, Jesse, additional, Rémi, Jan, additional, Noachtar, Soheyl, additional, Nagase, Miki, additional, Fujita, Toshiro, additional, Cogolludo, Angel, additional, Yuan, Jason X.-J., additional, Rubin, Lewis J., additional, Davis, Manning R., additional, Poduval, T. Balakrishna, additional, Chatterjee, Saurabh, additional, Gozu, Hulya Iliksu, additional, Eszlinger, Markus, additional, Bircan, Rifat, additional, Lüblinghoff, Julia, additional, Lüblighoff, Julia, additional, Pfäffle, Roland, additional, Zhao, Shui-Ping, additional, Ye, Hui-Jun, additional, Mogensen, Jens, additional, Kebudi, Rejin, additional, Saglam, Sezer, additional, Becker, Michael A., additional, Asplin, John R., additional, Gotshall, Robert W., additional, Scharnagl, Hubert, additional, März, Winfried, additional, Sayer, John A., additional, Pearce, Simon H., additional, Paparello, James J., additional, Klemmer, Philip J., additional, Kshirsagar, Abhijit V., additional, Ma, Patrick T. S., additional, Ma, Lucia K., additional, Castori, Marco, additional, Siener, Roswitha, additional, Habermehl, Pirmin, additional, Knuf, Markus, additional, Michalski, Christoph, additional, Kleeff, Jörg, additional, Richter-Unruh, Annette, additional, Headon, Denis J., additional, Overbeek, Paul A., additional, Bree, Alanna F., additional, Belge, Hendrica, additional, Riveira-Munoz, Eva, additional, Devuyst, Olivier, additional, Weber, Stefanie, additional, Moritz, Michael L., additional, Ayus, Juan Carlos, additional, Pearce, Simon H. S., additional, Whyte, Michael P., additional, Fukagawa, Masafumi, additional, Tanaka, Motoko, additional, Tenenhouse, Harriet S., additional, Gutenberg, Angelika, additional, Caturegli, Patrizio, additional, Oswalt, Christy T., additional, Eghtesady, Pirooz, additional, Suneja, Manish, additional, Thomas, Christie P., additional, Sasaki, Hirokazu, additional, Yukioka, Tetsuo, additional, Van Steensel, Maurice A. M., additional, Wu, Rongqian, additional, Wang, Ping, additional, Feuerstein, Giora, additional, Ruffolo, Robert, additional, Jinnah, Hyder A., additional, Harris, James C., additional, Eltzschig, Holger K., additional, and Grenz, Almut, additional
Published: 2009
Full Text: View/download PDF

95. Gastroenteritis, Esoinophilic

Author: Timson, David J., primary, Reece, Richard J., additional, Thoden, James B., additional, Holden, Hazel M., additional, L. Utz, Andrea, additional, Biller, Beverly M. K., additional, Strehle, Eugen-Matthias, additional, Böhm, Markus, additional, Luger, Thomas A., additional, Leung, Alexander K. C., additional, Wong, Andrew L., additional, Donner, Markus G., additional, Häussinger, Dieter, additional, Mann, Nirmal S., additional, Schmitt, Marcus, additional, Robson, William Lane M., additional, Balwani, Manisha, additional, Prakash-Cheng*, Ainu, additional, Desnick, Robert J., additional, Lerche, Holger, additional, Scheffer, Ingrid E., additional, Berkovic, Samuel F., additional, Lobnig, Brigitte M., additional, Jansen, Peter L. M., additional, Waldegger, Siegfried, additional, Lang, Florian, additional, Cate, Hugo ten, additional, Thieme, Hagen, additional, Weller, Michael, additional, Schütte, Bärbel, additional, Fass, Ronnie, additional, Kato, Hideki, additional, Nangaku, Masaomi, additional, Chang, Anthony, additional, Kadambi, Pradeep V., additional, Alexander, Jessy J., additional, Ronco, Pierre, additional, Debiec, Hanna, additional, Hugo, Christian, additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Francis, Jean, additional, Geller, David S., additional, Brockmann, Knut, additional, Wang, Dong, additional, Vivo, Darryl C., additional, Kölker, Stefan, additional, Erasmus, Elardus, additional, Mienie, Lodewyk J., additional, Vissing, John, additional, Reuser, Arnold, additional, Correia, Catherine E., additional, Weinstein, David A., additional, Wolfsdorf, Joseph I., additional, Shin, Yoon S., additional, Hesselink, Reinout P., additional, Drost, Maarten R., additional, Wagenmakers, Anton J. M., additional, Vusse, Ger J., additional, Kiechl, Stefan, additional, Denecke, Jonas, additional, Schepers, Ute, additional, Kolter, Thomas, additional, Sandhoff, Konrad, additional, Martin, Dianna C., additional, Triggs-Raine, Barbara L., additional, Sancak, Seda, additional, Paschke, Ralf, additional, Borza, Dorin-Bogdan, additional, Ständer, Sonja, additional, Traupe, Heiko, additional, Becker, Michael A., additional, Straaten, Hanneke M., additional, Verdonck, Leo F., additional, Cate, Hugo Ten, additional, Mempel, Martin, additional, Abeck, Dietrich, additional, Ghanem, Ismat, additional, Hage, Samer El, additional, Bode, Johannes G., additional, Fleisher, Thomas A., additional, Holland, Steven M., additional, Myers, Bennett, additional, Herrmann, David, additional, Kraiem, Zaki, additional, Tomer, Yaron, additional, Davies, Terry F., additional, White, James G., additional, Stöckler-Ipsiroglu, Sylvia, additional, Stoll, Guido, additional, Toyka, Klaus V., additional, Lamounier-Zepter, Valéria, additional, and Ruether, Klaus, additional
Published: 2009
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96. Gangliosidosis, Pseudo AB Variant

Author: Timson, David J., primary, Reece, Richard J., additional, Thoden, James B., additional, Holden, Hazel M., additional, L. Utz, Andrea, additional, Biller, Beverly M. K., additional, Strehle, Eugen-Matthias, additional, Böhm, Markus, additional, Luger, Thomas A., additional, Leung, Alexander K. C., additional, Wong, Andrew L., additional, Donner, Markus G., additional, Häussinger, Dieter, additional, Mann, Nirmal S., additional, Schmitt, Marcus, additional, Robson, William Lane M., additional, Balwani, Manisha, additional, Prakash-Cheng*, Ainu, additional, Desnick, Robert J., additional, Lerche, Holger, additional, Scheffer, Ingrid E., additional, Berkovic, Samuel F., additional, Lobnig, Brigitte M., additional, Jansen, Peter L. M., additional, Waldegger, Siegfried, additional, Lang, Florian, additional, Cate, Hugo ten, additional, Thieme, Hagen, additional, Weller, Michael, additional, Schütte, Bärbel, additional, Fass, Ronnie, additional, Kato, Hideki, additional, Nangaku, Masaomi, additional, Chang, Anthony, additional, Kadambi, Pradeep V., additional, Alexander, Jessy J., additional, Ronco, Pierre, additional, Debiec, Hanna, additional, Hugo, Christian, additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Francis, Jean, additional, Geller, David S., additional, Brockmann, Knut, additional, Wang, Dong, additional, Vivo, Darryl C., additional, Kölker, Stefan, additional, Erasmus, Elardus, additional, Mienie, Lodewyk J., additional, Vissing, John, additional, Reuser, Arnold, additional, Correia, Catherine E., additional, Weinstein, David A., additional, Wolfsdorf, Joseph I., additional, Shin, Yoon S., additional, Hesselink, Reinout P., additional, Drost, Maarten R., additional, Wagenmakers, Anton J. M., additional, Vusse, Ger J., additional, Kiechl, Stefan, additional, Denecke, Jonas, additional, Schepers, Ute, additional, Kolter, Thomas, additional, Sandhoff, Konrad, additional, Martin, Dianna C., additional, Triggs-Raine, Barbara L., additional, Sancak, Seda, additional, Paschke, Ralf, additional, Borza, Dorin-Bogdan, additional, Ständer, Sonja, additional, Traupe, Heiko, additional, Becker, Michael A., additional, Straaten, Hanneke M., additional, Verdonck, Leo F., additional, Cate, Hugo Ten, additional, Mempel, Martin, additional, Abeck, Dietrich, additional, Ghanem, Ismat, additional, Hage, Samer El, additional, Bode, Johannes G., additional, Fleisher, Thomas A., additional, Holland, Steven M., additional, Myers, Bennett, additional, Herrmann, David, additional, Kraiem, Zaki, additional, Tomer, Yaron, additional, Davies, Terry F., additional, White, James G., additional, Stöckler-Ipsiroglu, Sylvia, additional, Stoll, Guido, additional, Toyka, Klaus V., additional, Lamounier-Zepter, Valéria, additional, and Ruether, Klaus, additional
Published: 2009
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97. Globus Sensation

Author: Timson, David J., primary, Reece, Richard J., additional, Thoden, James B., additional, Holden, Hazel M., additional, L. Utz, Andrea, additional, Biller, Beverly M. K., additional, Strehle, Eugen-Matthias, additional, Böhm, Markus, additional, Luger, Thomas A., additional, Leung, Alexander K. C., additional, Wong, Andrew L., additional, Donner, Markus G., additional, Häussinger, Dieter, additional, Mann, Nirmal S., additional, Schmitt, Marcus, additional, Robson, William Lane M., additional, Balwani, Manisha, additional, Prakash-Cheng*, Ainu, additional, Desnick, Robert J., additional, Lerche, Holger, additional, Scheffer, Ingrid E., additional, Berkovic, Samuel F., additional, Lobnig, Brigitte M., additional, Jansen, Peter L. M., additional, Waldegger, Siegfried, additional, Lang, Florian, additional, Cate, Hugo ten, additional, Thieme, Hagen, additional, Weller, Michael, additional, Schütte, Bärbel, additional, Fass, Ronnie, additional, Kato, Hideki, additional, Nangaku, Masaomi, additional, Chang, Anthony, additional, Kadambi, Pradeep V., additional, Alexander, Jessy J., additional, Ronco, Pierre, additional, Debiec, Hanna, additional, Hugo, Christian, additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Francis, Jean, additional, Geller, David S., additional, Brockmann, Knut, additional, Wang, Dong, additional, Vivo, Darryl C., additional, Kölker, Stefan, additional, Erasmus, Elardus, additional, Mienie, Lodewyk J., additional, Vissing, John, additional, Reuser, Arnold, additional, Correia, Catherine E., additional, Weinstein, David A., additional, Wolfsdorf, Joseph I., additional, Shin, Yoon S., additional, Hesselink, Reinout P., additional, Drost, Maarten R., additional, Wagenmakers, Anton J. M., additional, Vusse, Ger J., additional, Kiechl, Stefan, additional, Denecke, Jonas, additional, Schepers, Ute, additional, Kolter, Thomas, additional, Sandhoff, Konrad, additional, Martin, Dianna C., additional, Triggs-Raine, Barbara L., additional, Sancak, Seda, additional, Paschke, Ralf, additional, Borza, Dorin-Bogdan, additional, Ständer, Sonja, additional, Traupe, Heiko, additional, Becker, Michael A., additional, Straaten, Hanneke M., additional, Verdonck, Leo F., additional, Cate, Hugo Ten, additional, Mempel, Martin, additional, Abeck, Dietrich, additional, Ghanem, Ismat, additional, Hage, Samer El, additional, Bode, Johannes G., additional, Fleisher, Thomas A., additional, Holland, Steven M., additional, Myers, Bennett, additional, Herrmann, David, additional, Kraiem, Zaki, additional, Tomer, Yaron, additional, Davies, Terry F., additional, White, James G., additional, Stöckler-Ipsiroglu, Sylvia, additional, Stoll, Guido, additional, Toyka, Klaus V., additional, Lamounier-Zepter, Valéria, additional, and Ruether, Klaus, additional
Published: 2009
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98. Goitrous Autoimmune Thyroiditis

Author: Timson, David J., primary, Reece, Richard J., additional, Thoden, James B., additional, Holden, Hazel M., additional, L. Utz, Andrea, additional, Biller, Beverly M. K., additional, Strehle, Eugen-Matthias, additional, Böhm, Markus, additional, Luger, Thomas A., additional, Leung, Alexander K. C., additional, Wong, Andrew L., additional, Donner, Markus G., additional, Häussinger, Dieter, additional, Mann, Nirmal S., additional, Schmitt, Marcus, additional, Robson, William Lane M., additional, Balwani, Manisha, additional, Prakash-Cheng*, Ainu, additional, Desnick, Robert J., additional, Lerche, Holger, additional, Scheffer, Ingrid E., additional, Berkovic, Samuel F., additional, Lobnig, Brigitte M., additional, Jansen, Peter L. M., additional, Waldegger, Siegfried, additional, Lang, Florian, additional, Cate, Hugo ten, additional, Thieme, Hagen, additional, Weller, Michael, additional, Schütte, Bärbel, additional, Fass, Ronnie, additional, Kato, Hideki, additional, Nangaku, Masaomi, additional, Chang, Anthony, additional, Kadambi, Pradeep V., additional, Alexander, Jessy J., additional, Ronco, Pierre, additional, Debiec, Hanna, additional, Hugo, Christian, additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Francis, Jean, additional, Geller, David S., additional, Brockmann, Knut, additional, Wang, Dong, additional, Vivo, Darryl C., additional, Kölker, Stefan, additional, Erasmus, Elardus, additional, Mienie, Lodewyk J., additional, Vissing, John, additional, Reuser, Arnold, additional, Correia, Catherine E., additional, Weinstein, David A., additional, Wolfsdorf, Joseph I., additional, Shin, Yoon S., additional, Hesselink, Reinout P., additional, Drost, Maarten R., additional, Wagenmakers, Anton J. M., additional, Vusse, Ger J., additional, Kiechl, Stefan, additional, Denecke, Jonas, additional, Schepers, Ute, additional, Kolter, Thomas, additional, Sandhoff, Konrad, additional, Martin, Dianna C., additional, Triggs-Raine, Barbara L., additional, Sancak, Seda, additional, Paschke, Ralf, additional, Borza, Dorin-Bogdan, additional, Ständer, Sonja, additional, Traupe, Heiko, additional, Becker, Michael A., additional, Straaten, Hanneke M., additional, Verdonck, Leo F., additional, Cate, Hugo Ten, additional, Mempel, Martin, additional, Abeck, Dietrich, additional, Ghanem, Ismat, additional, Hage, Samer El, additional, Bode, Johannes G., additional, Fleisher, Thomas A., additional, Holland, Steven M., additional, Myers, Bennett, additional, Herrmann, David, additional, Kraiem, Zaki, additional, Tomer, Yaron, additional, Davies, Terry F., additional, White, James G., additional, Stöckler-Ipsiroglu, Sylvia, additional, Stoll, Guido, additional, Toyka, Klaus V., additional, Lamounier-Zepter, Valéria, additional, and Ruether, Klaus, additional
Published: 2009
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99. δ-Granule Defects

Author: Timson, David J., primary, Reece, Richard J., additional, Thoden, James B., additional, Holden, Hazel M., additional, L. Utz, Andrea, additional, Biller, Beverly M. K., additional, Strehle, Eugen-Matthias, additional, Böhm, Markus, additional, Luger, Thomas A., additional, Leung, Alexander K. C., additional, Wong, Andrew L., additional, Donner, Markus G., additional, Häussinger, Dieter, additional, Mann, Nirmal S., additional, Schmitt, Marcus, additional, Robson, William Lane M., additional, Balwani, Manisha, additional, Prakash-Cheng*, Ainu, additional, Desnick, Robert J., additional, Lerche, Holger, additional, Scheffer, Ingrid E., additional, Berkovic, Samuel F., additional, Lobnig, Brigitte M., additional, Jansen, Peter L. M., additional, Waldegger, Siegfried, additional, Lang, Florian, additional, Cate, Hugo ten, additional, Thieme, Hagen, additional, Weller, Michael, additional, Schütte, Bärbel, additional, Fass, Ronnie, additional, Kato, Hideki, additional, Nangaku, Masaomi, additional, Chang, Anthony, additional, Kadambi, Pradeep V., additional, Alexander, Jessy J., additional, Ronco, Pierre, additional, Debiec, Hanna, additional, Hugo, Christian, additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Francis, Jean, additional, Geller, David S., additional, Brockmann, Knut, additional, Wang, Dong, additional, Vivo, Darryl C., additional, Kölker, Stefan, additional, Erasmus, Elardus, additional, Mienie, Lodewyk J., additional, Vissing, John, additional, Reuser, Arnold, additional, Correia, Catherine E., additional, Weinstein, David A., additional, Wolfsdorf, Joseph I., additional, Shin, Yoon S., additional, Hesselink, Reinout P., additional, Drost, Maarten R., additional, Wagenmakers, Anton J. M., additional, Vusse, Ger J., additional, Kiechl, Stefan, additional, Denecke, Jonas, additional, Schepers, Ute, additional, Kolter, Thomas, additional, Sandhoff, Konrad, additional, Martin, Dianna C., additional, Triggs-Raine, Barbara L., additional, Sancak, Seda, additional, Paschke, Ralf, additional, Borza, Dorin-Bogdan, additional, Ständer, Sonja, additional, Traupe, Heiko, additional, Becker, Michael A., additional, Straaten, Hanneke M., additional, Verdonck, Leo F., additional, Cate, Hugo Ten, additional, Mempel, Martin, additional, Abeck, Dietrich, additional, Ghanem, Ismat, additional, Hage, Samer El, additional, Bode, Johannes G., additional, Fleisher, Thomas A., additional, Holland, Steven M., additional, Myers, Bennett, additional, Herrmann, David, additional, Kraiem, Zaki, additional, Tomer, Yaron, additional, Davies, Terry F., additional, White, James G., additional, Stöckler-Ipsiroglu, Sylvia, additional, Stoll, Guido, additional, Toyka, Klaus V., additional, Lamounier-Zepter, Valéria, additional, and Ruether, Klaus, additional
Published: 2009
Full Text: View/download PDF

100. Goodpasture’s Disease

Author: Timson, David J., primary, Reece, Richard J., additional, Thoden, James B., additional, Holden, Hazel M., additional, L. Utz, Andrea, additional, Biller, Beverly M. K., additional, Strehle, Eugen-Matthias, additional, Böhm, Markus, additional, Luger, Thomas A., additional, Leung, Alexander K. C., additional, Wong, Andrew L., additional, Donner, Markus G., additional, Häussinger, Dieter, additional, Mann, Nirmal S., additional, Schmitt, Marcus, additional, Robson, William Lane M., additional, Balwani, Manisha, additional, Prakash-Cheng*, Ainu, additional, Desnick, Robert J., additional, Lerche, Holger, additional, Scheffer, Ingrid E., additional, Berkovic, Samuel F., additional, Lobnig, Brigitte M., additional, Jansen, Peter L. M., additional, Waldegger, Siegfried, additional, Lang, Florian, additional, Cate, Hugo ten, additional, Thieme, Hagen, additional, Weller, Michael, additional, Schütte, Bärbel, additional, Fass, Ronnie, additional, Kato, Hideki, additional, Nangaku, Masaomi, additional, Chang, Anthony, additional, Kadambi, Pradeep V., additional, Alexander, Jessy J., additional, Ronco, Pierre, additional, Debiec, Hanna, additional, Hugo, Christian, additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Francis, Jean, additional, Geller, David S., additional, Brockmann, Knut, additional, Wang, Dong, additional, Vivo, Darryl C., additional, Kölker, Stefan, additional, Erasmus, Elardus, additional, Mienie, Lodewyk J., additional, Vissing, John, additional, Reuser, Arnold, additional, Correia, Catherine E., additional, Weinstein, David A., additional, Wolfsdorf, Joseph I., additional, Shin, Yoon S., additional, Hesselink, Reinout P., additional, Drost, Maarten R., additional, Wagenmakers, Anton J. M., additional, Vusse, Ger J., additional, Kiechl, Stefan, additional, Denecke, Jonas, additional, Schepers, Ute, additional, Kolter, Thomas, additional, Sandhoff, Konrad, additional, Martin, Dianna C., additional, Triggs-Raine, Barbara L., additional, Sancak, Seda, additional, Paschke, Ralf, additional, Borza, Dorin-Bogdan, additional, Ständer, Sonja, additional, Traupe, Heiko, additional, Becker, Michael A., additional, Straaten, Hanneke M., additional, Verdonck, Leo F., additional, Cate, Hugo Ten, additional, Mempel, Martin, additional, Abeck, Dietrich, additional, Ghanem, Ismat, additional, Hage, Samer El, additional, Bode, Johannes G., additional, Fleisher, Thomas A., additional, Holland, Steven M., additional, Myers, Bennett, additional, Herrmann, David, additional, Kraiem, Zaki, additional, Tomer, Yaron, additional, Davies, Terry F., additional, White, James G., additional, Stöckler-Ipsiroglu, Sylvia, additional, Stoll, Guido, additional, Toyka, Klaus V., additional, Lamounier-Zepter, Valéria, additional, and Ruether, Klaus, additional
Published: 2009
Full Text: View/download PDF

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