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268 results on '"Koen L"'

1. LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndrome

Author

Cluster C, Endocrinologie, Child Health, Genetica Klinische Genetica, Genetica, Genetica Sectie Genoomdiagnostiek, Pozojevic, Jelena, Sivaprasad, Radhika, Laß, Joshua, Haarich, Franziska, Trinh, Joanne, Kakar, Naseebullah, Schulz, Kristin, Händler, Kristian, Verrijn Stuart, Annemarie A., Giltay, Jacques C., van Gassen, Koen L., Caliebe, Almuth, Holterhus, Paul Martin, Spielmann, Malte, Hornig, Nadine C., Cluster C, Endocrinologie, Child Health, Genetica Klinische Genetica, Genetica, Genetica Sectie Genoomdiagnostiek, Pozojevic, Jelena, Sivaprasad, Radhika, Laß, Joshua, Haarich, Franziska, Trinh, Joanne, Kakar, Naseebullah, Schulz, Kristin, Händler, Kristian, Verrijn Stuart, Annemarie A., Giltay, Jacques C., van Gassen, Koen L., Caliebe, Almuth, Holterhus, Paul Martin, Spielmann, Malte, and Hornig, Nadine C.

Published
2024

2. Impact of intraoperative imaging on decision-making during spine surgery: a survey among spine surgeons using simulated intraoperative images

Author

MS Orthopaedie Algemeen, Trialbureau Beeld, Orthopaedie Onderzoek, Beeldverwerking ISI, Brain, Cancer, MS Radiologie, MS Radiotherapie, Regenerative Medicine and Stem Cells, Bindels, Bas J J, Hovenier, Renée, Groot, Olivier Q, Vincken, Koen L, Rongen, Jan J, Smits, Maarten L J, Verlaan, Jorrit-Jan, MS Orthopaedie Algemeen, Trialbureau Beeld, Orthopaedie Onderzoek, Beeldverwerking ISI, Brain, Cancer, MS Radiologie, MS Radiotherapie, Regenerative Medicine and Stem Cells, Bindels, Bas J J, Hovenier, Renée, Groot, Olivier Q, Vincken, Koen L, Rongen, Jan J, Smits, Maarten L J, and Verlaan, Jorrit-Jan

Published
2024

3. Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

Author

Integrale & Alg. Kindergen Patientenzorg, Child Health, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Brain, Kalm, Tassja, Schob, Claudia, Völler, Hanna, Gardeitchik, Thatjana, Gilissen, Christian, Pfundt, Rolph, Klöckner, Chiara, Platzer, Konrad, Klabunde-Cherwon, Annick, Ries, Markus, Syrbe, Steffen, Beccaria, Francesca, Madia, Francesca, Scala, Marcello, Zara, Federico, Hofstede, Floris, Simon, Marleen E H, van Jaarsveld, Richard H, Oegema, Renske, van Gassen, Koen L I, Holwerda, Sjoerd J B, Barakat, Tahsin Stefan, Bouman, Arjan, van Slegtenhorst, Marjon, Álvarez, Sara, Fernández-Jaén, Alberto, Porta, Javier, Accogli, Andrea, Mancardi, Margherita Maria, Striano, Pasquale, Iacomino, Michele, Chae, Jong-Hee, Jang, SeSong, Kim, Soo Y, Chitayat, David, Mercimek-Andrews, Saadet, Depienne, Christel, Kampmeier, Antje, Kuechler, Alma, Surowy, Harald, Bertini, Enrico Silvio, Radio, Francesca Clementina, Mancini, Cecilia, Pizzi, Simone, Tartaglia, Marco, Gauthier, Lucas, Genevieve, David, Tharreau, Mylène, Azoulay, Noy, Zaks-Hoffer, Gal, Gilad, Nesia K, Orenstein, Naama, Bernard, Geneviève, Thiffault, Isabelle, Denecke, Jonas, Herget, Theresia, Kortüm, Fanny, Kubisch, Christian, Bähring, Robert, Kindler, Stefan, Integrale & Alg. Kindergen Patientenzorg, Child Health, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Brain, Kalm, Tassja, Schob, Claudia, Völler, Hanna, Gardeitchik, Thatjana, Gilissen, Christian, Pfundt, Rolph, Klöckner, Chiara, Platzer, Konrad, Klabunde-Cherwon, Annick, Ries, Markus, Syrbe, Steffen, Beccaria, Francesca, Madia, Francesca, Scala, Marcello, Zara, Federico, Hofstede, Floris, Simon, Marleen E H, van Jaarsveld, Richard H, Oegema, Renske, van Gassen, Koen L I, Holwerda, Sjoerd J B, Barakat, Tahsin Stefan, Bouman, Arjan, van Slegtenhorst, Marjon, Álvarez, Sara, Fernández-Jaén, Alberto, Porta, Javier, Accogli, Andrea, Mancardi, Margherita Maria, Striano, Pasquale, Iacomino, Michele, Chae, Jong-Hee, Jang, SeSong, Kim, Soo Y, Chitayat, David, Mercimek-Andrews, Saadet, Depienne, Christel, Kampmeier, Antje, Kuechler, Alma, Surowy, Harald, Bertini, Enrico Silvio, Radio, Francesca Clementina, Mancini, Cecilia, Pizzi, Simone, Tartaglia, Marco, Gauthier, Lucas, Genevieve, David, Tharreau, Mylène, Azoulay, Noy, Zaks-Hoffer, Gal, Gilad, Nesia K, Orenstein, Naama, Bernard, Geneviève, Thiffault, Isabelle, Denecke, Jonas, Herget, Theresia, Kortüm, Fanny, Kubisch, Christian, Bähring, Robert, and Kindler, Stefan

Published
2024

5. Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders

Author

Houdayer, Clara, Phillips, A Marie, Chabbert, Marie, Bourreau, Jennifer, Maroofian, Reza, Houlden, Henry, Richards, Kay, Saadi, Nebal Waill, Dad'ová, Eliška, Van Bogaert, Patrick, Rupin, Mailys, Keren, Boris, Charles, Perrine, Smol, Thomas, Riquet, Audrey, Pais, Lynn, O'Donnell-Luria, Anne, VanNoy, Grace E, Bayat, Allan, Møller, Rikke S, Olofsson, Kern, Abou Jamra, Rami, Syrbe, Steffen, Dasouki, Majed, Seaver, Laurie H, Sullivan, Jennifer A, Shashi, Vandana, Alkuraya, Fowzan S, Poss, Alexis F, Spence, J Edward, Schnur, Rhonda E, Forster, Ian C, Mckenzie, Chaseley E, Simons, Cas, Wang, Min, Snell, Penny, Kothur, Kavitha, Buckley, Michael, Roscioli, Tony, Elserafy, Noha, Dauriat, Benjamin, Procaccio, Vincent, Henrion, Daniel, Lenaers, Guy, Colin, Estelle, Verbeek, Nienke E, Van Gassen, Koen L, Legendre, Claire, Bonneau, Dominique, Reid, Christopher A, Howell, Katherine B, Ziegler, Alban, Legros, Christian, Houdayer, Clara, Phillips, A Marie, Chabbert, Marie, Bourreau, Jennifer, Maroofian, Reza, Houlden, Henry, Richards, Kay, Saadi, Nebal Waill, Dad'ová, Eliška, Van Bogaert, Patrick, Rupin, Mailys, Keren, Boris, Charles, Perrine, Smol, Thomas, Riquet, Audrey, Pais, Lynn, O'Donnell-Luria, Anne, VanNoy, Grace E, Bayat, Allan, Møller, Rikke S, Olofsson, Kern, Abou Jamra, Rami, Syrbe, Steffen, Dasouki, Majed, Seaver, Laurie H, Sullivan, Jennifer A, Shashi, Vandana, Alkuraya, Fowzan S, Poss, Alexis F, Spence, J Edward, Schnur, Rhonda E, Forster, Ian C, Mckenzie, Chaseley E, Simons, Cas, Wang, Min, Snell, Penny, Kothur, Kavitha, Buckley, Michael, Roscioli, Tony, Elserafy, Noha, Dauriat, Benjamin, Procaccio, Vincent, Henrion, Daniel, Lenaers, Guy, Colin, Estelle, Verbeek, Nienke E, Van Gassen, Koen L, Legendre, Claire, Bonneau, Dominique, Reid, Christopher A, Howell, Katherine B, Ziegler, Alban, and Legros, Christian

Abstract

Hyperpolarization activated Cyclic Nucleotide (HCN) gated channels are crucial for various neurophysiological functions, including learning and sensory functions, and their dysfunction are responsible for brain disorders, such as epilepsy. To date, HCN2 variants have only been associated with mild epilepsy and recently, one monoallelic missense variant has been linked to developmental and epileptic encephalopathy. Here, we expand the phenotypic spectrum of HCN2- related disorders by describing twenty-one additional individuals from fifteen unrelated families carrying HCN2 variants. Seventeen individuals had developmental delay/intellectual disability (DD/ID), two had borderline DD/ID, and one had borderline DD. Ten individuals had epilepsy with DD/ID, with median age of onset of 10 months, and one had epilepsy with normal development. Molecular diagnosis identified thirteen different pathogenic HCN2 variants, including eleven missense variants affecting highly conserved amino acids, one frameshift variant, and one in-frame deletion. Seven variants were monoallelic of which five occurred de novo, one was not maternally inherited, one was inherited from a father with mild learning disabilities, and one was of unknown inheritance. The remaining six variants were biallelic, with four homozygous and two compound heterozygous variants. Functional studies using two-electrode voltage-clamp recordings in Xenopus laevis oocytes were performed on three monoallelic variants, p.(Arg324His), p.(Ala363Val), and p.(Met374Leu), and three biallelic variants, p.(Leu377His), p.(Pro493Leu) and p.(Gly587Asp). The p.(Arg324His) variant induced a strong increase of HCN2 conductance, while p.(Ala363Val) and p.(Met374Leu) displayed dominant negative effects, leading to a partial loss of HCN2 channel function. By confocal imaging, we found that the p.(Leu377His), p.(Pro493Leu) and p.(Gly587Asp) pathogenic variants impaired membrane trafficking, resulting in a complete loss of HCN2 elicited

Published
2024

6. Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders

Author

Houdayer, Clara, Phillips, A Marie, Chabbert, Marie, Bourreau, Jennifer, Maroofian, Reza, Houlden, Henry, Richards, Kay, Saadi, Nebal Waill, Dad'ová, Eliška, Van Bogaert, Patrick, Rupin, Mailys, Keren, Boris, Charles, Perrine, Smol, Thomas, Riquet, Audrey, Pais, Lynn, O'Donnell-Luria, Anne, VanNoy, Grace E, Bayat, Allan, Møller, Rikke S, Olofsson, Kern, Abou Jamra, Rami, Syrbe, Steffen, Dasouki, Majed, Seaver, Laurie H, Sullivan, Jennifer A, Shashi, Vandana, Alkuraya, Fowzan S, Poss, Alexis F, Spence, J Edward, Schnur, Rhonda E, Forster, Ian C, Mckenzie, Chaseley E, Simons, Cas, Wang, Min, Snell, Penny, Kothur, Kavitha, Buckley, Michael, Roscioli, Tony, Elserafy, Noha, Dauriat, Benjamin, Procaccio, Vincent, Henrion, Daniel, Lenaers, Guy, Colin, Estelle, Verbeek, Nienke E, Van Gassen, Koen L, Legendre, Claire, Bonneau, Dominique, Reid, Christopher A, Howell, Katherine B, Ziegler, Alban, Legros, Christian, Houdayer, Clara, Phillips, A Marie, Chabbert, Marie, Bourreau, Jennifer, Maroofian, Reza, Houlden, Henry, Richards, Kay, Saadi, Nebal Waill, Dad'ová, Eliška, Van Bogaert, Patrick, Rupin, Mailys, Keren, Boris, Charles, Perrine, Smol, Thomas, Riquet, Audrey, Pais, Lynn, O'Donnell-Luria, Anne, VanNoy, Grace E, Bayat, Allan, Møller, Rikke S, Olofsson, Kern, Abou Jamra, Rami, Syrbe, Steffen, Dasouki, Majed, Seaver, Laurie H, Sullivan, Jennifer A, Shashi, Vandana, Alkuraya, Fowzan S, Poss, Alexis F, Spence, J Edward, Schnur, Rhonda E, Forster, Ian C, Mckenzie, Chaseley E, Simons, Cas, Wang, Min, Snell, Penny, Kothur, Kavitha, Buckley, Michael, Roscioli, Tony, Elserafy, Noha, Dauriat, Benjamin, Procaccio, Vincent, Henrion, Daniel, Lenaers, Guy, Colin, Estelle, Verbeek, Nienke E, Van Gassen, Koen L, Legendre, Claire, Bonneau, Dominique, Reid, Christopher A, Howell, Katherine B, Ziegler, Alban, and Legros, Christian

Abstract

Hyperpolarization activated Cyclic Nucleotide (HCN) gated channels are crucial for various neurophysiological functions, including learning and sensory functions, and their dysfunction are responsible for brain disorders, such as epilepsy. To date, HCN2 variants have only been associated with mild epilepsy and recently, one monoallelic missense variant has been linked to developmental and epileptic encephalopathy. Here, we expand the phenotypic spectrum of HCN2- related disorders by describing twenty-one additional individuals from fifteen unrelated families carrying HCN2 variants. Seventeen individuals had developmental delay/intellectual disability (DD/ID), two had borderline DD/ID, and one had borderline DD. Ten individuals had epilepsy with DD/ID, with median age of onset of 10 months, and one had epilepsy with normal development. Molecular diagnosis identified thirteen different pathogenic HCN2 variants, including eleven missense variants affecting highly conserved amino acids, one frameshift variant, and one in-frame deletion. Seven variants were monoallelic of which five occurred de novo, one was not maternally inherited, one was inherited from a father with mild learning disabilities, and one was of unknown inheritance. The remaining six variants were biallelic, with four homozygous and two compound heterozygous variants. Functional studies using two-electrode voltage-clamp recordings in Xenopus laevis oocytes were performed on three monoallelic variants, p.(Arg324His), p.(Ala363Val), and p.(Met374Leu), and three biallelic variants, p.(Leu377His), p.(Pro493Leu) and p.(Gly587Asp). The p.(Arg324His) variant induced a strong increase of HCN2 conductance, while p.(Ala363Val) and p.(Met374Leu) displayed dominant negative effects, leading to a partial loss of HCN2 channel function. By confocal imaging, we found that the p.(Leu377His), p.(Pro493Leu) and p.(Gly587Asp) pathogenic variants impaired membrane trafficking, resulting in a complete loss of HCN2 elicited

Published
2024

7. Home telemonitoring versus hospital care in complicated pregnancies in the Netherlands:a randomised, controlled non-inferiority trial (HoTeL)

Author

Bekker, Mireille N., Koster, Maria P.H., Keusters, Willem R., Ganzevoort, Wessel, de Haan-Jebbink, Jiska M., Deurloo, Koen L., Seeber, Laura, van der Ham, David P., Zuithoff, Nicolaas P.A., Frederix, Geert W.J., van den Heuvel, Josephus F.M., Franx, Arie, Bekker, Mireille N., Koster, Maria P.H., Keusters, Willem R., Ganzevoort, Wessel, de Haan-Jebbink, Jiska M., Deurloo, Koen L., Seeber, Laura, van der Ham, David P., Zuithoff, Nicolaas P.A., Frederix, Geert W.J., van den Heuvel, Josephus F.M., and Franx, Arie

Abstract

Background: Women with complicated pregnancies often require hospital admission. Telemonitoring at home is a promising alternative that fulfils a worldwide need in obstetric health care. Moreover, the COVID-19 pandemic has accelerated the transformation to digital care. The aim of this study was to evaluate safety, clinical effectiveness, patient satisfaction, and costs of home telemonitoring against hospital care in complicated pregnancies. Methods: We did a multicentre, randomised, controlled, non-inferiority trial in six hospitals (four general teaching hospitals and two university hospitals) in the Netherlands (located in Utrecht, Amsterdam, and Groningen). Women aged 18 years and older with singleton pregnancies (>26 weeks gestation) requiring monitoring for pre-eclampsia, fetal growth restriction, fetal anomaly, preterm rupture of membranes, reduced fetal movements, or history of fetal death were included in the study. Participants were randomly assigned to either hospital admission or telemonitoring in (1:1), stratified for the six diagnoses for inclusion and the six centres of inclusion, using block randomisation (block sizes of four and six). When assigned to telemonitoring, participants went home with devices for cardiotocography and blood pressure measurements and had daily contact with their care providers after digitally sending their home measurements. When assigned to hospital admission, participants received care as usual on the ward until the postpartum period. The primary outcome was a composite of adverse perinatal outcomes assessed after delivery, including mortality; an Apgar score below 7 after 5 min or an umbilical arterial pH at birth below 7·05; maternal morbidity; admission of the newborn to the neonatal intensive care unit; and rate of caesarean section. The primary outcome was assessed in the intention-to-treat population. The non-inferiority margin for the primary outcome was a 10% absolute increase in composite primary endpoint ba

Published
2023

8. Home telemonitoring versus hospital care in complicated pregnancies in the Netherlands: a randomised, controlled non-inferiority trial (HoTeL)

Author

MS Verloskunde, Child Health, Circulatory Health, HTA Onderzoek Team 3, HEE, Arts-assistenten DV&B, Biostatistiek Onderzoek, Other research (not in main researchprogram), JC onderzoeksprogramma Methodologie, Brain, Bekker, Mireille N., Koster, Maria P.H., Keusters, Willem R., Ganzevoort, Wessel, de Haan-Jebbink, Jiska M., Deurloo, Koen L., Seeber, Laura, van der Ham, David P., Zuithoff, Nicolaas P.A., Frederix, Geert W.J., van den Heuvel, Josephus F.M., Franx, Arie, MS Verloskunde, Child Health, Circulatory Health, HTA Onderzoek Team 3, HEE, Arts-assistenten DV&B, Biostatistiek Onderzoek, Other research (not in main researchprogram), JC onderzoeksprogramma Methodologie, Brain, Bekker, Mireille N., Koster, Maria P.H., Keusters, Willem R., Ganzevoort, Wessel, de Haan-Jebbink, Jiska M., Deurloo, Koen L., Seeber, Laura, van der Ham, David P., Zuithoff, Nicolaas P.A., Frederix, Geert W.J., van den Heuvel, Josephus F.M., and Franx, Arie

Published
2023

10. Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

Author

Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Circulatory Health, Cuinat, Silvestre, Nizon, Mathilde, Isidor, Bertrand, Stegmann, Alexander, van Jaarsveld, Richard H, van Gassen, Koen L, van der Smagt, Jasper J, Volker-Touw, Catharina M L, Holwerda, Sjoerd J B, Terhal, Paulien A, Schuhmann, Sarah, Vasileiou, Georgia, Khalifa, Mohamed, Nugud, Alaa A, Yasaei, Hemad, Ousager, Lilian Bomme, Brasch-Andersen, Charlotte, Deb, Wallid, Besnard, Thomas, Simon, Marleen E H, Amsterdam, Karin Huijsdens-van, Verbeek, Nienke E, Matalon, Dena, Dykzeul, Natalie, White, Shana, Spiteri, Elizabeth, Devriendt, Koen, Boogaerts, Anneleen, Willemsen, Marjolein, Brunner, Han G, Sinnema, Margje, De Vries, Bert B A, Gerkes, Erica H, Pfundt, Rolph, Izumi, Kosuke, Krantz, Ian D, Xu, Zhou L, Murrell, Jill R, Valenzuela, Irene, Cusco, Ivon, Rovira-Moreno, Eulàlia, Yang, Yaping, Bizaoui, Varoona, Patat, Olivier, Faivre, Laurence, Tran-Mau-Them, Frederic, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Philippe, Christophe, Bezieau, Stéphane, Cogné, Benjamin, Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Circulatory Health, Cuinat, Silvestre, Nizon, Mathilde, Isidor, Bertrand, Stegmann, Alexander, van Jaarsveld, Richard H, van Gassen, Koen L, van der Smagt, Jasper J, Volker-Touw, Catharina M L, Holwerda, Sjoerd J B, Terhal, Paulien A, Schuhmann, Sarah, Vasileiou, Georgia, Khalifa, Mohamed, Nugud, Alaa A, Yasaei, Hemad, Ousager, Lilian Bomme, Brasch-Andersen, Charlotte, Deb, Wallid, Besnard, Thomas, Simon, Marleen E H, Amsterdam, Karin Huijsdens-van, Verbeek, Nienke E, Matalon, Dena, Dykzeul, Natalie, White, Shana, Spiteri, Elizabeth, Devriendt, Koen, Boogaerts, Anneleen, Willemsen, Marjolein, Brunner, Han G, Sinnema, Margje, De Vries, Bert B A, Gerkes, Erica H, Pfundt, Rolph, Izumi, Kosuke, Krantz, Ian D, Xu, Zhou L, Murrell, Jill R, Valenzuela, Irene, Cusco, Ivon, Rovira-Moreno, Eulàlia, Yang, Yaping, Bizaoui, Varoona, Patat, Olivier, Faivre, Laurence, Tran-Mau-Them, Frederic, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Philippe, Christophe, Bezieau, Stéphane, and Cogné, Benjamin

Published
2022

11. Return to Sport and Work after Randomization for Knee Distraction versus High Tibial Osteotomy: Is There a Difference?

Author

Lab Reumatologie/Klinische Immunologie, Infection & Immunity, Regenerative Medicine and Stem Cells, Hoorntje, Alexander, Kuijer, P Paul F M, Koenraadt, Koen L M, Waterval-Witjes, Suzanne, Kerkhoffs, Gino M M J, Mastbergen, Simon C, Marijnissen, Anne C A, Jansen, Mylène P, van Geenen, Rutger C I, Lab Reumatologie/Klinische Immunologie, Infection & Immunity, Regenerative Medicine and Stem Cells, Hoorntje, Alexander, Kuijer, P Paul F M, Koenraadt, Koen L M, Waterval-Witjes, Suzanne, Kerkhoffs, Gino M M J, Mastbergen, Simon C, Marijnissen, Anne C A, Jansen, Mylène P, and van Geenen, Rutger C I

Published
2022

12. Expertise development in volumetric image interpretation of radiology residents: what do longitudinal scroll data reveal?

Author

van Montfort, Dorien, Kok, Ellen, Vincken, Koen L, van der Schaaf, Marieke, van der Gijp, Anouk, Ravesloot, Cecile, Rutgers, Dirk, van Montfort, Dorien, Kok, Ellen, Vincken, Koen L, van der Schaaf, Marieke, van der Gijp, Anouk, Ravesloot, Cecile, and Rutgers, Dirk

Abstract

The current study used theories on expertise development (the holistic model of image perception and the information reduction hypothesis) as a starting point to identify and explore potentially relevant process measures to monitor and evaluate expertise development in radiology residency training. It is the first to examine expertise development in volumetric image interpretation (i.e., CT scans) within radiology residents using scroll data collected longitudinally over five years of residency training. Consistent with the holistic model of image perception, the percentage of time spent on full runs, i.e. scrolling through more than 50% of the CT-scan slices (global search), decreased within residents over residency training years. Furthermore, the percentage of time spent on question-relevant areas in the CT scans increased within residents over residency training years, consistent with the information reduction hypothesis. Second, we examined if scroll patterns can predict diagnostic accuracy. The percentage of time spent on full runs and the percentage of time spent on question-relevant areas did not predict diagnostic accuracy. Thus, although scroll patterns over training years are consistent with visual expertise theories, they could not be used as predictors of diagnostic accuracy in the current study. Therefore, the relation between scroll patterns and performance needs to be further examined, before process measures can be used to monitor and evaluate expertise development in radiology residency training.

Published
2021

13. Expertise development in volumetric image interpretation of radiology residents: what do longitudinal scroll data reveal?

Author

Leerstoel van Gog, Education and Learning: Development in Interaction, Leerstoel Kester, van Montfort, Dorien, Kok, Ellen, Vincken, Koen L, van der Schaaf, Marieke, van der Gijp, Anouk, Ravesloot, Cecile, Rutgers, Dirk, Leerstoel van Gog, Education and Learning: Development in Interaction, Leerstoel Kester, van Montfort, Dorien, Kok, Ellen, Vincken, Koen L, van der Schaaf, Marieke, van der Gijp, Anouk, Ravesloot, Cecile, and Rutgers, Dirk

Published
2021

14. Expertise development in volumetric image interpretation of radiology residents: what do longitudinal scroll data reveal?

Author

Leerstoel van Gog, Education and Learning: Development in Interaction, Leerstoel Kester, van Montfort, Dorien, Kok, Ellen, Vincken, Koen L, van der Schaaf, Marieke, van der Gijp, Anouk, Ravesloot, Cecile, Rutgers, Dirk, Leerstoel van Gog, Education and Learning: Development in Interaction, Leerstoel Kester, van Montfort, Dorien, Kok, Ellen, Vincken, Koen L, van der Schaaf, Marieke, van der Gijp, Anouk, Ravesloot, Cecile, and Rutgers, Dirk

Published
2021

15. Expertise development in volumetric image interpretation of radiology residents: what do longitudinal scroll data reveal?

Author

Leerstoel van Gog, Education and Learning: Development in Interaction, Leerstoel Kester, van Montfort, Dorien, Kok, Ellen, Vincken, Koen L, van der Schaaf, Marieke, van der Gijp, Anouk, Ravesloot, Cecile, Rutgers, Dirk, Leerstoel van Gog, Education and Learning: Development in Interaction, Leerstoel Kester, van Montfort, Dorien, Kok, Ellen, Vincken, Koen L, van der Schaaf, Marieke, van der Gijp, Anouk, Ravesloot, Cecile, and Rutgers, Dirk

Published
2021

16. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Author

Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Harris, Holly K, Nakayama, Tojo, Lai, Jenny, Zhao, Boxun, Argyrou, Nikoleta, Gubbels, Cynthia S, Soucy, Aubrie, Genetti, Casie A, Suslovitch, Victoria, Rodan, Lance H, Tiller, George E, Lesca, Gaetan, Gripp, Karen W, Asadollahi, Reza, Hamosh, Ada, Applegate, Carolyn D, Turnpenny, Peter D, Simon, Marleen E H, Volker-Touw, Catharina M L, Gassen, Koen L I van, Binsbergen, Ellen van, Pfundt, Rolph, Gardeitchik, Thatjana, Vries, Bert B A de, Immken, LaDonna L, Buchanan, Catherine, Willing, Marcia, Toler, Tomi L, Fassi, Emily, Baker, Laura, Vansenne, Fleur, Wang, Xiadong, Ambrus, Julian L, Fannemel, Madeleine, Posey, Jennifer E, Agolini, Emanuele, Novelli, Antonio, Rauch, Anita, Boonsawat, Paranchai, Fagerberg, Christina R, Larsen, Martin J, Kibaek, Maria, Labalme, Audrey, Poisson, Alice, Payne, Katelyn K, Walsh, Laurence E, Aldinger, Kimberly A, Balciuniene, Jorune, Skraban, Cara, Gray, Christopher, Murrell, Jill, Bupp, Caleb P, Pascolini, Giulia, Grammatico, Paola, Broly, Martin, Küry, Sébastien, Nizon, Mathilde, Rasool, Iqra Ghulam, Zahoor, Muhammad Yasir, Kraus, Cornelia, Reis, André, Iqbal, Muhammad, Uguen, Kevin, Audebert-Bellanger, Severine, Ferec, Claude, Redon, Sylvia, Baker, Janice, Wu, Yunhong, Zampino, Guiseppe, Syrbe, Steffan, Brosse, Ines, Jamra, Rami Abou, Dobyns, William B, Cohen, Lilian L, Blomhoff, Anne, Mignot, Cyril, Keren, Boris, Courtin, Thomas, Agrawal, Pankaj B, Beggs, Alan H, Yu, Timothy W, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Harris, Holly K, Nakayama, Tojo, Lai, Jenny, Zhao, Boxun, Argyrou, Nikoleta, Gubbels, Cynthia S, Soucy, Aubrie, Genetti, Casie A, Suslovitch, Victoria, Rodan, Lance H, Tiller, George E, Lesca, Gaetan, Gripp, Karen W, Asadollahi, Reza, Hamosh, Ada, Applegate, Carolyn D, Turnpenny, Peter D, Simon, Marleen E H, Volker-Touw, Catharina M L, Gassen, Koen L I van, Binsbergen, Ellen van, Pfundt, Rolph, Gardeitchik, Thatjana, Vries, Bert B A de, Immken, LaDonna L, Buchanan, Catherine, Willing, Marcia, Toler, Tomi L, Fassi, Emily, Baker, Laura, Vansenne, Fleur, Wang, Xiadong, Ambrus, Julian L, Fannemel, Madeleine, Posey, Jennifer E, Agolini, Emanuele, Novelli, Antonio, Rauch, Anita, Boonsawat, Paranchai, Fagerberg, Christina R, Larsen, Martin J, Kibaek, Maria, Labalme, Audrey, Poisson, Alice, Payne, Katelyn K, Walsh, Laurence E, Aldinger, Kimberly A, Balciuniene, Jorune, Skraban, Cara, Gray, Christopher, Murrell, Jill, Bupp, Caleb P, Pascolini, Giulia, Grammatico, Paola, Broly, Martin, Küry, Sébastien, Nizon, Mathilde, Rasool, Iqra Ghulam, Zahoor, Muhammad Yasir, Kraus, Cornelia, Reis, André, Iqbal, Muhammad, Uguen, Kevin, Audebert-Bellanger, Severine, Ferec, Claude, Redon, Sylvia, Baker, Janice, Wu, Yunhong, Zampino, Guiseppe, Syrbe, Steffan, Brosse, Ines, Jamra, Rami Abou, Dobyns, William B, Cohen, Lilian L, Blomhoff, Anne, Mignot, Cyril, Keren, Boris, Courtin, Thomas, Agrawal, Pankaj B, Beggs, Alan H, and Yu, Timothy W

Published
2021

17. Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia

Author

Terhal, Paulien A, Vlaar, Judith M, Middelkamp, Sjors, Nievelstein, Rutger A J, Nikkels, Peter G J, Ross, Jamila, Créton, Marijn, Bos, Jeroen W, Voskuil-Kerkhof, Elsbeth S M, Cuppen, Edwin, Knoers, Nine, van Gassen, Koen L I, Terhal, Paulien A, Vlaar, Judith M, Middelkamp, Sjors, Nievelstein, Rutger A J, Nikkels, Peter G J, Ross, Jamila, Créton, Marijn, Bos, Jeroen W, Voskuil-Kerkhof, Elsbeth S M, Cuppen, Edwin, Knoers, Nine, and van Gassen, Koen L I

Published
2020

18. Cartilage Quality (dGEMRIC Index) Following Knee Joint Distraction or High Tibial Osteotomy

Author

Besselink, Nick J, Vincken, Koen L, Bartels, L Wilbert, van Heerwaarden, Ronald J, Concepcion, Arno N, Marijnissen, Anne C A, Spruijt, Sander, Custers, Roel J H, van der Woude, Jan-Ton A D, Wiegant, Karen, Welsing, Paco M J, Mastbergen, Simon C, Lafeber, Floris P J G, Besselink, Nick J, Vincken, Koen L, Bartels, L Wilbert, van Heerwaarden, Ronald J, Concepcion, Arno N, Marijnissen, Anne C A, Spruijt, Sander, Custers, Roel J H, van der Woude, Jan-Ton A D, Wiegant, Karen, Welsing, Paco M J, Mastbergen, Simon C, and Lafeber, Floris P J G

Published
2020

19. Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia

Author

Terhal, Paulien A, Vlaar, Judith M, Middelkamp, Sjors, Nievelstein, Rutger A J, Nikkels, Peter G J, Ross, Jamila, Créton, Marijn, Bos, Jeroen W, Voskuil-Kerkhof, Elsbeth S M, Cuppen, Edwin, Knoers, Nine, van Gassen, Koen L I, Terhal, Paulien A, Vlaar, Judith M, Middelkamp, Sjors, Nievelstein, Rutger A J, Nikkels, Peter G J, Ross, Jamila, Créton, Marijn, Bos, Jeroen W, Voskuil-Kerkhof, Elsbeth S M, Cuppen, Edwin, Knoers, Nine, and van Gassen, Koen L I

Published
2020

20. Cartilage Quality (dGEMRIC Index) Following Knee Joint Distraction or High Tibial Osteotomy

Author

Besselink, Nick J, Vincken, Koen L, Bartels, L Wilbert, van Heerwaarden, Ronald J, Concepcion, Arno N, Marijnissen, Anne C A, Spruijt, Sander, Custers, Roel J H, van der Woude, Jan-Ton A D, Wiegant, Karen, Welsing, Paco M J, Mastbergen, Simon C, Lafeber, Floris P J G, Besselink, Nick J, Vincken, Koen L, Bartels, L Wilbert, van Heerwaarden, Ronald J, Concepcion, Arno N, Marijnissen, Anne C A, Spruijt, Sander, Custers, Roel J H, van der Woude, Jan-Ton A D, Wiegant, Karen, Welsing, Paco M J, Mastbergen, Simon C, and Lafeber, Floris P J G

Published
2020

21. Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia

Author

Terhal, Paulien A, Vlaar, Judith M, Middelkamp, Sjors, Nievelstein, Rutger A J, Nikkels, Peter G J, Ross, Jamila, Créton, Marijn, Bos, Jeroen W, Voskuil-Kerkhof, Elsbeth S M, Cuppen, Edwin, Knoers, Nine, van Gassen, Koen L I, Terhal, Paulien A, Vlaar, Judith M, Middelkamp, Sjors, Nievelstein, Rutger A J, Nikkels, Peter G J, Ross, Jamila, Créton, Marijn, Bos, Jeroen W, Voskuil-Kerkhof, Elsbeth S M, Cuppen, Edwin, Knoers, Nine, and van Gassen, Koen L I

Published
2020

22. Cartilage Quality (dGEMRIC Index) Following Knee Joint Distraction or High Tibial Osteotomy

Author

Besselink, Nick J, Vincken, Koen L, Bartels, L Wilbert, van Heerwaarden, Ronald J, Concepcion, Arno N, Marijnissen, Anne C A, Spruijt, Sander, Custers, Roel J H, van der Woude, Jan-Ton A D, Wiegant, Karen, Welsing, Paco M J, Mastbergen, Simon C, Lafeber, Floris P J G, Besselink, Nick J, Vincken, Koen L, Bartels, L Wilbert, van Heerwaarden, Ronald J, Concepcion, Arno N, Marijnissen, Anne C A, Spruijt, Sander, Custers, Roel J H, van der Woude, Jan-Ton A D, Wiegant, Karen, Welsing, Paco M J, Mastbergen, Simon C, and Lafeber, Floris P J G

Published
2020

23. Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia

Author

Genetica Klinische Genetica, Child Health, CMM Groep Cuppen, Cancer, Arts-assistenten Radiologie, Other research (not in main researchprogram), Pathologie Pathologen staf, MKA/BT Onderzoek, Poli BT 9A-MFP, Opleiding Neurologie, MS Oogheelkunde, Infection & Immunity, CMM, Genetica, Genetica Sectie Genoomdiagnostiek, Terhal, Paulien A, Vlaar, Judith M, Middelkamp, Sjors, Nievelstein, Rutger A J, Nikkels, Peter G J, Ross, Jamila, Créton, Marijn, Bos, Jeroen W, Voskuil-Kerkhof, Elsbeth S M, Cuppen, Edwin, Knoers, Nine, van Gassen, Koen L I, Genetica Klinische Genetica, Child Health, CMM Groep Cuppen, Cancer, Arts-assistenten Radiologie, Other research (not in main researchprogram), Pathologie Pathologen staf, MKA/BT Onderzoek, Poli BT 9A-MFP, Opleiding Neurologie, MS Oogheelkunde, Infection & Immunity, CMM, Genetica, Genetica Sectie Genoomdiagnostiek, Terhal, Paulien A, Vlaar, Judith M, Middelkamp, Sjors, Nievelstein, Rutger A J, Nikkels, Peter G J, Ross, Jamila, Créton, Marijn, Bos, Jeroen W, Voskuil-Kerkhof, Elsbeth S M, Cuppen, Edwin, Knoers, Nine, and van Gassen, Koen L I

Published
2020

24. Cartilage Quality (dGEMRIC Index) Following Knee Joint Distraction or High Tibial Osteotomy

Author

Lab Reumatologie/Klinische Immunologie, Other research (not in main researchprogram), Beeldverwerking ISI, Brain, Cancer, Regenerative Medicine and Stem Cells, MS Orthopaedie Algemeen, Infection & Immunity, JC onderzoeksprogramma Methodologie, Besselink, Nick J, Vincken, Koen L, Bartels, L Wilbert, van Heerwaarden, Ronald J, Concepcion, Arno N, Marijnissen, Anne C A, Spruijt, Sander, Custers, Roel J H, van der Woude, Jan-Ton A D, Wiegant, Karen, Welsing, Paco M J, Mastbergen, Simon C, Lafeber, Floris P J G, Lab Reumatologie/Klinische Immunologie, Other research (not in main researchprogram), Beeldverwerking ISI, Brain, Cancer, Regenerative Medicine and Stem Cells, MS Orthopaedie Algemeen, Infection & Immunity, JC onderzoeksprogramma Methodologie, Besselink, Nick J, Vincken, Koen L, Bartels, L Wilbert, van Heerwaarden, Ronald J, Concepcion, Arno N, Marijnissen, Anne C A, Spruijt, Sander, Custers, Roel J H, van der Woude, Jan-Ton A D, Wiegant, Karen, Welsing, Paco M J, Mastbergen, Simon C, and Lafeber, Floris P J G

Published
2020

25. Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes

Author

Metabole ziekten patientenzorg, Child Health, Regenerative Medicine and Stem Cells, Metabole ziekten onderzoek 2, Pathologie Groep Derksen, Pathologie Pathologen staf, Cancer, Genetica, Genetica Sectie Genoomdiagnostiek, MS Neonatologie, Infection & Immunity, MDL patientenzorg, Cluster C, Fuchs, Sabine A, Schene, Imre F, Kok, Gautam, Jansen, Jurriaan M, Nikkels, Peter G J, van Gassen, Koen L I, Terheggen-Lagro, Suzanne W J, van der Crabben, Saskia N, Hoeks, Sanne E, Niers, Laetitia E M, Wolf, Nicole I, de Vries, Maaike C, Koolen, David A, Houwen, Roderick H J, Mulder, Margot F, van Hasselt, Peter M, Metabole ziekten patientenzorg, Child Health, Regenerative Medicine and Stem Cells, Metabole ziekten onderzoek 2, Pathologie Groep Derksen, Pathologie Pathologen staf, Cancer, Genetica, Genetica Sectie Genoomdiagnostiek, MS Neonatologie, Infection & Immunity, MDL patientenzorg, Cluster C, Fuchs, Sabine A, Schene, Imre F, Kok, Gautam, Jansen, Jurriaan M, Nikkels, Peter G J, van Gassen, Koen L I, Terheggen-Lagro, Suzanne W J, van der Crabben, Saskia N, Hoeks, Sanne E, Niers, Laetitia E M, Wolf, Nicole I, de Vries, Maaike C, Koolen, David A, Houwen, Roderick H J, Mulder, Margot F, and van Hasselt, Peter M

Published
2020

26. The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course

Author

Metabole ziekten onderzoek 1, Genetica Sectie Genoomdiagnostiek, Child Health, Cluster C, Metabole ziekten patientenzorg, Infection & Immunity, Kuper, Willemijn F E, van Alfen, Claudia, van Eck, Linda, de Man, Stella A, Willemsen, Marjolein H, van Gassen, Koen L I, Losekoot, Monique, van Hasselt, Peter M, Metabole ziekten onderzoek 1, Genetica Sectie Genoomdiagnostiek, Child Health, Cluster C, Metabole ziekten patientenzorg, Infection & Immunity, Kuper, Willemijn F E, van Alfen, Claudia, van Eck, Linda, de Man, Stella A, Willemsen, Marjolein H, van Gassen, Koen L I, Losekoot, Monique, and van Hasselt, Peter M

Published
2020

27. De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms

Author

Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Nakashima, Mitsuko, Kato, Mitsuhiro, Matsukura, Masaru, Kira, Ryutaro, Ngu, Lock-Hock, Lichtenbelt, Klaske D, van Gassen, Koen L I, Mitsuhashi, Satomi, Saitsu, Hirotomo, Matsumoto, Naomichi, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Nakashima, Mitsuko, Kato, Mitsuhiro, Matsukura, Masaru, Kira, Ryutaro, Ngu, Lock-Hock, Lichtenbelt, Klaske D, van Gassen, Koen L I, Mitsuhashi, Satomi, Saitsu, Hirotomo, and Matsumoto, Naomichi

Published
2020

28. De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

Author

Reynhout, Sara, Jansen, Sandra, Haesen, Dorien, van Belle, Siska, de Munnik, Sonja A., Bongers, Ernie M.H.F., Schieving, Jolanda H., Marcelis, Carlo, Amiel, Jeanne, Rio, Marlène, Mclaughlin, Heather, Ladda, Roger, Sell, Susan, Kriek, Marjolein, Peeters-Scholte, Cacha M.P.C.D., Terhal, Paulien A., van Gassen, Koen L., Verbeek, Nienke, Henry, Sonja, Scott Schwoerer, Jessica, Malik, Saleem, Revencu, Nicole, Ferreira, Carlos R., Macnamara, Ellen, Braakman, Hilde M.H., Brimble, Elise, Ruznikov, Maura R.Z., Wagner, Matias, Harrer, Philip, Wieczorek, Dagmar, Kuechler, Alma, Tziperman, Barak, Barel, Ortal, de Vries, Bert B.A., Gordon, Christopher T., Janssens, Veerle, Vissers, Lisenka E.L.M., Reynhout, Sara, Jansen, Sandra, Haesen, Dorien, van Belle, Siska, de Munnik, Sonja A., Bongers, Ernie M.H.F., Schieving, Jolanda H., Marcelis, Carlo, Amiel, Jeanne, Rio, Marlène, Mclaughlin, Heather, Ladda, Roger, Sell, Susan, Kriek, Marjolein, Peeters-Scholte, Cacha M.P.C.D., Terhal, Paulien A., van Gassen, Koen L., Verbeek, Nienke, Henry, Sonja, Scott Schwoerer, Jessica, Malik, Saleem, Revencu, Nicole, Ferreira, Carlos R., Macnamara, Ellen, Braakman, Hilde M.H., Brimble, Elise, Ruznikov, Maura R.Z., Wagner, Matias, Harrer, Philip, Wieczorek, Dagmar, Kuechler, Alma, Tziperman, Barak, Barel, Ortal, de Vries, Bert B.A., Gordon, Christopher T., Janssens, Veerle, and Vissers, Lisenka E.L.M.

Published
2019

29. Erratum : De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders (The American Journal of Human Genetics (2019) 104(1) (139–156), (S0002929718304531) (10.1016/j.ajhg.2018.12.002))

Author

Reynhout, Sara, Jansen, Sandra, Haesen, Dorien, van Belle, Siska, de Munnik, Sonja A., Bongers, Ernie M.H.F., Schieving, Jolanda H., Marcelis, Carlo, Amiel, Jeanne, Rio, Marlène, Mclaughlin, Heather, Ladda, Roger, Sell, Susan, Kriek, Marjolein, Peeters-Scholte, Cacha M.P.C.D., Terhal, Paulien A., van Gassen, Koen L., Verbeek, Nienke, Henry, Sonja, Schwoerer, Jessica Scott, Malik, Saleem, Revencu, Nicole, Ferreira, Carlos R., Macnamara, Ellen, Braakman, Hilde M.H., Brimble, Elise, Ruzhnikov, Maura R.Z., Wagner, Matias, Harrer, Philip, Wieczorek, Dagmar, Kuechler, Alma, Tziperman, Barak, Barel, Ortal, de Vries, Bert B.A., Gordon, Christopher T., Janssens, Veerle, Vissers, Lisenka E.L.M., Reynhout, Sara, Jansen, Sandra, Haesen, Dorien, van Belle, Siska, de Munnik, Sonja A., Bongers, Ernie M.H.F., Schieving, Jolanda H., Marcelis, Carlo, Amiel, Jeanne, Rio, Marlène, Mclaughlin, Heather, Ladda, Roger, Sell, Susan, Kriek, Marjolein, Peeters-Scholte, Cacha M.P.C.D., Terhal, Paulien A., van Gassen, Koen L., Verbeek, Nienke, Henry, Sonja, Schwoerer, Jessica Scott, Malik, Saleem, Revencu, Nicole, Ferreira, Carlos R., Macnamara, Ellen, Braakman, Hilde M.H., Brimble, Elise, Ruzhnikov, Maura R.Z., Wagner, Matias, Harrer, Philip, Wieczorek, Dagmar, Kuechler, Alma, Tziperman, Barak, Barel, Ortal, de Vries, Bert B.A., Gordon, Christopher T., Janssens, Veerle, and Vissers, Lisenka E.L.M.

Published
2019

30. Aminoacyl-tRNA synthetase deficiencies in search of common themes

Author

Fuchs, Sabine A., Schene, Imre F., Kok, Gautam, Jansen, Jurriaan M., Nikkels, Peter G.J., Gassen, Koen L. I. van, Vries, M.C. de, Koolen, D.A., Mulder, Margot F., Hasselt, Peter M. van, Fuchs, Sabine A., Schene, Imre F., Kok, Gautam, Jansen, Jurriaan M., Nikkels, Peter G.J., Gassen, Koen L. I. van, Vries, M.C. de, Koolen, D.A., Mulder, Margot F., and Hasselt, Peter M. van

Abstract

Item does not contain fulltext

Published
2019

31. Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects : Clinical and biochemical responses

Author

Scalais, Emmanuel, Osterheld, Elise, Geron, Christine, Pierron, Charlotte, Chafai, Ronit, Schlesser, Vincent, Borde, Patricia, Regal, Luc, Laeremans, Hilde, van Gassen, Koen L I, van den Heuvel, L Bert, De Meirleir, Linda, Scalais, Emmanuel, Osterheld, Elise, Geron, Christine, Pierron, Charlotte, Chafai, Ronit, Schlesser, Vincent, Borde, Patricia, Regal, Luc, Laeremans, Hilde, van Gassen, Koen L I, van den Heuvel, L Bert, and De Meirleir, Linda

Published
2019

32. Phenotype delineation of ZNF462 related syndrome

Author

Kruszka, Paul, Hu, Tommy, Hong, Sungkook, Signer, Rebecca, Cogne, Benjamin, Isidor, Betrand, Mazzola, Sarah E., Giltay, Jacques C., van Gassen, Koen L. I., England, Eleina M., Pais, Lynn, Ockeloen, Charlotte W., Sanchez-Lara, Pedro A., Kinning, Esther, Adams, Darius J., Treat, Kayla, Torres-Martinez, Wilfredo, Bedeschi, Maria F., Iascone, Maria, Blaney, Stephanie, Bell, Oliver, Tan, Tiong Y., Delrue, Marie-Ange, Jurgens, Julie, Barry, Brenda J., Engle, Elizabeth C., Savage, Sarah K., Fleischer, Nicole, Martinez-Agosto, Julian A., Boycott, Kym, Zackai, Elaine H., Muenke, Maximilian, Kruszka, Paul, Hu, Tommy, Hong, Sungkook, Signer, Rebecca, Cogne, Benjamin, Isidor, Betrand, Mazzola, Sarah E., Giltay, Jacques C., van Gassen, Koen L. I., England, Eleina M., Pais, Lynn, Ockeloen, Charlotte W., Sanchez-Lara, Pedro A., Kinning, Esther, Adams, Darius J., Treat, Kayla, Torres-Martinez, Wilfredo, Bedeschi, Maria F., Iascone, Maria, Blaney, Stephanie, Bell, Oliver, Tan, Tiong Y., Delrue, Marie-Ange, Jurgens, Julie, Barry, Brenda J., Engle, Elizabeth C., Savage, Sarah K., Fleischer, Nicole, Martinez-Agosto, Julian A., Boycott, Kym, Zackai, Elaine H., and Muenke, Maximilian

Published
2019

33. Aminoacyl-tRNA synthetase deficiencies in search of common themes

Author

Fuchs, Sabine A, Schene, Imre F, Kok, Gautam, Jansen, Jurriaan M, Nikkels, Peter G J, van Gassen, Koen L I, Terheggen-Lagro, Suzanne W J, van der Crabben, Saskia N, Hoeks, Sanne E, Niers, Laetitia E M, Wolf, Nicole I, de Vries, Maaike C, Koolen, David A, Houwen, Roderick H J, Mulder, Margot F, van Hasselt, Peter M, Fuchs, Sabine A, Schene, Imre F, Kok, Gautam, Jansen, Jurriaan M, Nikkels, Peter G J, van Gassen, Koen L I, Terheggen-Lagro, Suzanne W J, van der Crabben, Saskia N, Hoeks, Sanne E, Niers, Laetitia E M, Wolf, Nicole I, de Vries, Maaike C, Koolen, David A, Houwen, Roderick H J, Mulder, Margot F, and van Hasselt, Peter M

Published
2019

34. De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

Author

Blok, Lot Snijders, Kleefstra, Tjitske, Venselaar, Hanka, Maas, Saskia, Kroes, Hester Y., Lachmeijer, Augusta M. A., van Gassen, Koen L., I, Firth, Helen, V, Tomkins, Susan, Bodek, Simon, Study, The D. D. D., Ounap, Katrin, Wojcik, Monica H., Cunniff, Christopher, Bergstrom, Katherine, Powis, Zoe, Tang, Sha, Shinde, Deepali N., Au, Catherine, Iglesias, Alejandro D., Izumi, Kosuke, Leonard, Jacqueline, Abou Tayoun, Ahmad, Baker, Samuel W., Tartaglia, Marco, Niceta, Marcello, Dentici, Maria Lisa, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Vitobello, Antonio, Faivre, Laurence, Philippe, Christophe, Gilissen, Christian, Wiel, Laurens, Pfundt, Rolph, Deriziotis, Pelagia, Brunner, Han G., Fisher, Simon E., Blok, Lot Snijders, Kleefstra, Tjitske, Venselaar, Hanka, Maas, Saskia, Kroes, Hester Y., Lachmeijer, Augusta M. A., van Gassen, Koen L., I, Firth, Helen, V, Tomkins, Susan, Bodek, Simon, Study, The D. D. D., Ounap, Katrin, Wojcik, Monica H., Cunniff, Christopher, Bergstrom, Katherine, Powis, Zoe, Tang, Sha, Shinde, Deepali N., Au, Catherine, Iglesias, Alejandro D., Izumi, Kosuke, Leonard, Jacqueline, Abou Tayoun, Ahmad, Baker, Samuel W., Tartaglia, Marco, Niceta, Marcello, Dentici, Maria Lisa, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Vitobello, Antonio, Faivre, Laurence, Philippe, Christophe, Gilissen, Christian, Wiel, Laurens, Pfundt, Rolph, Deriziotis, Pelagia, Brunner, Han G., and Fisher, Simon E.

Published
2019

35. De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

Author

Jansen, Sandra, van der Werf, Ilse M., Innes, A. Micheil, Afenjar, Alexandra, Agrawal, Pankaj B., Anderson, Ilse J., Atwal, Paldeep S., van Binsbergen, Ellen, van den Boogaard, Marie José, Castiglia, Lucia, Coban-Akdemir, Zeynep H., van Dijck, Anke, Doummar, Diane, van Eerde, Albertien M., van Essen, Anthonie J., van Gassen, Koen L., Guillen Sacoto, Maria J., van Haelst, Mieke M., Iossifov, Ivan, Jackson, Jessica L., Judd, Elizabeth, Kaiwar, Charu, Keren, Boris, Klee, Eric W., Klein Wassink-Ruiter, Jolien S., Meuwissen, Marije E., Monaghan, Kristin G., de Munnik, Sonja A., Nava, Caroline, Ockeloen, Charlotte W., Pettinato, Rosa, Racher, Hilary, Rinne, Tuula, Romano, Corrado, Sanders, Victoria R., Schnur, Rhonda E., Smeets, Eric J., Stegmann, Alexander P.A., Stray-Pedersen, Asbjørg, Sweetser, David A., Terhal, Paulien A., Tveten, Kristian, VanNoy, Grace E., de Vries, Petra F., Waxler, Jessica L., Willing, Marcia, Pfundt, Rolph, Veltman, Joris A., Kooy, R. Frank, Vissers, Lisenka E.L.M., de Vries, Bert B.A., Jansen, Sandra, van der Werf, Ilse M., Innes, A. Micheil, Afenjar, Alexandra, Agrawal, Pankaj B., Anderson, Ilse J., Atwal, Paldeep S., van Binsbergen, Ellen, van den Boogaard, Marie José, Castiglia, Lucia, Coban-Akdemir, Zeynep H., van Dijck, Anke, Doummar, Diane, van Eerde, Albertien M., van Essen, Anthonie J., van Gassen, Koen L., Guillen Sacoto, Maria J., van Haelst, Mieke M., Iossifov, Ivan, Jackson, Jessica L., Judd, Elizabeth, Kaiwar, Charu, Keren, Boris, Klee, Eric W., Klein Wassink-Ruiter, Jolien S., Meuwissen, Marije E., Monaghan, Kristin G., de Munnik, Sonja A., Nava, Caroline, Ockeloen, Charlotte W., Pettinato, Rosa, Racher, Hilary, Rinne, Tuula, Romano, Corrado, Sanders, Victoria R., Schnur, Rhonda E., Smeets, Eric J., Stegmann, Alexander P.A., Stray-Pedersen, Asbjørg, Sweetser, David A., Terhal, Paulien A., Tveten, Kristian, VanNoy, Grace E., de Vries, Petra F., Waxler, Jessica L., Willing, Marcia, Pfundt, Rolph, Veltman, Joris A., Kooy, R. Frank, Vissers, Lisenka E.L.M., and de Vries, Bert B.A.

Published
2019

37. Identification of human D lactate dehydrogenase deficiency

Author

Monroe, Glen R, van Eerde, Albertien M, Tessadori, Federico, Duran, Karen J, Savelberg, Sanne M C, van Alfen, Johanna C, Terhal, Paulien A, van der Crabben, Saskia N, Lichtenbelt, Klaske D, Fuchs, Sabine A, Gerrits, Johan, van Roosmalen, Markus J, van Gassen, Koen L, van Aalderen, Mirjam, Koot, Bart G, Oostendorp, Marlies, Duran, Marinus, Visser, Gepke, de Koning, Tom J, Calì, Francesco, Bosco, Paolo, Geleijns, Karin, de Sain-van der Velden, Monique G M, Knoers, Nine V, Bakkers, Jeroen, Verhoeven-Duif, Nanda M, van Haaften, Gijs, Jans, Judith J, Monroe, Glen R, van Eerde, Albertien M, Tessadori, Federico, Duran, Karen J, Savelberg, Sanne M C, van Alfen, Johanna C, Terhal, Paulien A, van der Crabben, Saskia N, Lichtenbelt, Klaske D, Fuchs, Sabine A, Gerrits, Johan, van Roosmalen, Markus J, van Gassen, Koen L, van Aalderen, Mirjam, Koot, Bart G, Oostendorp, Marlies, Duran, Marinus, Visser, Gepke, de Koning, Tom J, Calì, Francesco, Bosco, Paolo, Geleijns, Karin, de Sain-van der Velden, Monique G M, Knoers, Nine V, Bakkers, Jeroen, Verhoeven-Duif, Nanda M, van Haaften, Gijs, and Jans, Judith J

Published
2019

38. Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects : Clinical and biochemical responses

Author

Scalais, Emmanuel, Osterheld, Elise, Geron, Christine, Pierron, Charlotte, Chafai, Ronit, Schlesser, Vincent, Borde, Patricia, Regal, Luc, Laeremans, Hilde, van Gassen, Koen L I, van den Heuvel, L Bert, De Meirleir, Linda, Scalais, Emmanuel, Osterheld, Elise, Geron, Christine, Pierron, Charlotte, Chafai, Ronit, Schlesser, Vincent, Borde, Patricia, Regal, Luc, Laeremans, Hilde, van Gassen, Koen L I, van den Heuvel, L Bert, and De Meirleir, Linda

Published
2019

39. Aminoacyl-tRNA synthetase deficiencies in search of common themes

Author

Fuchs, Sabine A, Schene, Imre F, Kok, Gautam, Jansen, Jurriaan M, Nikkels, Peter G J, van Gassen, Koen L I, Terheggen-Lagro, Suzanne W J, van der Crabben, Saskia N, Hoeks, Sanne E, Niers, Laetitia E M, Wolf, Nicole I, de Vries, Maaike C, Koolen, David A, Houwen, Roderick H J, Mulder, Margot F, van Hasselt, Peter M, Fuchs, Sabine A, Schene, Imre F, Kok, Gautam, Jansen, Jurriaan M, Nikkels, Peter G J, van Gassen, Koen L I, Terheggen-Lagro, Suzanne W J, van der Crabben, Saskia N, Hoeks, Sanne E, Niers, Laetitia E M, Wolf, Nicole I, de Vries, Maaike C, Koolen, David A, Houwen, Roderick H J, Mulder, Margot F, and van Hasselt, Peter M

Published
2019

40. De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

Author

Blok, Lot Snijders, Kleefstra, Tjitske, Venselaar, Hanka, Maas, Saskia, Kroes, Hester Y., Lachmeijer, Augusta M. A., van Gassen, Koen L., I, Firth, Helen, V, Tomkins, Susan, Bodek, Simon, Study, The D. D. D., Ounap, Katrin, Wojcik, Monica H., Cunniff, Christopher, Bergstrom, Katherine, Powis, Zoe, Tang, Sha, Shinde, Deepali N., Au, Catherine, Iglesias, Alejandro D., Izumi, Kosuke, Leonard, Jacqueline, Abou Tayoun, Ahmad, Baker, Samuel W., Tartaglia, Marco, Niceta, Marcello, Dentici, Maria Lisa, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Vitobello, Antonio, Faivre, Laurence, Philippe, Christophe, Gilissen, Christian, Wiel, Laurens, Pfundt, Rolph, Deriziotis, Pelagia, Brunner, Han G., Fisher, Simon E., Blok, Lot Snijders, Kleefstra, Tjitske, Venselaar, Hanka, Maas, Saskia, Kroes, Hester Y., Lachmeijer, Augusta M. A., van Gassen, Koen L., I, Firth, Helen, V, Tomkins, Susan, Bodek, Simon, Study, The D. D. D., Ounap, Katrin, Wojcik, Monica H., Cunniff, Christopher, Bergstrom, Katherine, Powis, Zoe, Tang, Sha, Shinde, Deepali N., Au, Catherine, Iglesias, Alejandro D., Izumi, Kosuke, Leonard, Jacqueline, Abou Tayoun, Ahmad, Baker, Samuel W., Tartaglia, Marco, Niceta, Marcello, Dentici, Maria Lisa, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Vitobello, Antonio, Faivre, Laurence, Philippe, Christophe, Gilissen, Christian, Wiel, Laurens, Pfundt, Rolph, Deriziotis, Pelagia, Brunner, Han G., and Fisher, Simon E.

Published
2019

41. De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

Author

Jansen, Sandra, van der Werf, Ilse M., Innes, A. Micheil, Afenjar, Alexandra, Agrawal, Pankaj B., Anderson, Ilse J., Atwal, Paldeep S., van Binsbergen, Ellen, van den Boogaard, Marie José, Castiglia, Lucia, Coban-Akdemir, Zeynep H., van Dijck, Anke, Doummar, Diane, van Eerde, Albertien M., van Essen, Anthonie J., van Gassen, Koen L., Guillen Sacoto, Maria J., van Haelst, Mieke M., Iossifov, Ivan, Jackson, Jessica L., Judd, Elizabeth, Kaiwar, Charu, Keren, Boris, Klee, Eric W., Klein Wassink-Ruiter, Jolien S., Meuwissen, Marije E., Monaghan, Kristin G., de Munnik, Sonja A., Nava, Caroline, Ockeloen, Charlotte W., Pettinato, Rosa, Racher, Hilary, Rinne, Tuula, Romano, Corrado, Sanders, Victoria R., Schnur, Rhonda E., Smeets, Eric J., Stegmann, Alexander P.A., Stray-Pedersen, Asbjørg, Sweetser, David A., Terhal, Paulien A., Tveten, Kristian, VanNoy, Grace E., de Vries, Petra F., Waxler, Jessica L., Willing, Marcia, Pfundt, Rolph, Veltman, Joris A., Kooy, R. Frank, Vissers, Lisenka E.L.M., de Vries, Bert B.A., Jansen, Sandra, van der Werf, Ilse M., Innes, A. Micheil, Afenjar, Alexandra, Agrawal, Pankaj B., Anderson, Ilse J., Atwal, Paldeep S., van Binsbergen, Ellen, van den Boogaard, Marie José, Castiglia, Lucia, Coban-Akdemir, Zeynep H., van Dijck, Anke, Doummar, Diane, van Eerde, Albertien M., van Essen, Anthonie J., van Gassen, Koen L., Guillen Sacoto, Maria J., van Haelst, Mieke M., Iossifov, Ivan, Jackson, Jessica L., Judd, Elizabeth, Kaiwar, Charu, Keren, Boris, Klee, Eric W., Klein Wassink-Ruiter, Jolien S., Meuwissen, Marije E., Monaghan, Kristin G., de Munnik, Sonja A., Nava, Caroline, Ockeloen, Charlotte W., Pettinato, Rosa, Racher, Hilary, Rinne, Tuula, Romano, Corrado, Sanders, Victoria R., Schnur, Rhonda E., Smeets, Eric J., Stegmann, Alexander P.A., Stray-Pedersen, Asbjørg, Sweetser, David A., Terhal, Paulien A., Tveten, Kristian, VanNoy, Grace E., de Vries, Petra F., Waxler, Jessica L., Willing, Marcia, Pfundt, Rolph, Veltman, Joris A., Kooy, R. Frank, Vissers, Lisenka E.L.M., and de Vries, Bert B.A.

Published
2019

42. Identification of human D lactate dehydrogenase deficiency

Author

Monroe, Glen R, van Eerde, Albertien M, Tessadori, Federico, Duran, Karen J, Savelberg, Sanne M C, van Alfen, Johanna C, Terhal, Paulien A, van der Crabben, Saskia N, Lichtenbelt, Klaske D, Fuchs, Sabine A, Gerrits, Johan, van Roosmalen, Markus J, van Gassen, Koen L, van Aalderen, Mirjam, Koot, Bart G, Oostendorp, Marlies, Duran, Marinus, Visser, Gepke, de Koning, Tom J, Calì, Francesco, Bosco, Paolo, Geleijns, Karin, de Sain-van der Velden, Monique G M, Knoers, Nine V, Bakkers, Jeroen, Verhoeven-Duif, Nanda M, van Haaften, Gijs, Jans, Judith J, Monroe, Glen R, van Eerde, Albertien M, Tessadori, Federico, Duran, Karen J, Savelberg, Sanne M C, van Alfen, Johanna C, Terhal, Paulien A, van der Crabben, Saskia N, Lichtenbelt, Klaske D, Fuchs, Sabine A, Gerrits, Johan, van Roosmalen, Markus J, van Gassen, Koen L, van Aalderen, Mirjam, Koot, Bart G, Oostendorp, Marlies, Duran, Marinus, Visser, Gepke, de Koning, Tom J, Calì, Francesco, Bosco, Paolo, Geleijns, Karin, de Sain-van der Velden, Monique G M, Knoers, Nine V, Bakkers, Jeroen, Verhoeven-Duif, Nanda M, van Haaften, Gijs, and Jans, Judith J

Published
2019

44. Identification of human D lactate dehydrogenase deficiency

Author

Monroe, Glen R, van Eerde, Albertien M, Tessadori, Federico, Duran, Karen J, Savelberg, Sanne M C, van Alfen, Johanna C, Terhal, Paulien A, van der Crabben, Saskia N, Lichtenbelt, Klaske D, Fuchs, Sabine A, Gerrits, Johan, van Roosmalen, Markus J, van Gassen, Koen L, van Aalderen, Mirjam, Koot, Bart G, Oostendorp, Marlies, Duran, Marinus, Visser, Gepke, de Koning, Tom J, Calì, Francesco, Bosco, Paolo, Geleijns, Karin, de Sain-van der Velden, Monique G M, Knoers, Nine V, Bakkers, Jeroen, Verhoeven-Duif, Nanda M, van Haaften, Gijs, Jans, Judith J, Monroe, Glen R, van Eerde, Albertien M, Tessadori, Federico, Duran, Karen J, Savelberg, Sanne M C, van Alfen, Johanna C, Terhal, Paulien A, van der Crabben, Saskia N, Lichtenbelt, Klaske D, Fuchs, Sabine A, Gerrits, Johan, van Roosmalen, Markus J, van Gassen, Koen L, van Aalderen, Mirjam, Koot, Bart G, Oostendorp, Marlies, Duran, Marinus, Visser, Gepke, de Koning, Tom J, Calì, Francesco, Bosco, Paolo, Geleijns, Karin, de Sain-van der Velden, Monique G M, Knoers, Nine V, Bakkers, Jeroen, Verhoeven-Duif, Nanda M, van Haaften, Gijs, and Jans, Judith J

Abstract

Phenotypic and biochemical categorization of humans with detrimental variants can provide valuable information on gene function. We illustrate this with the identification of two different homozygous variants resulting in enzymatic loss-of-function in LDHD, encoding lactate dehydrogenase D, in two unrelated patients with elevated D-lactate urinary excretion and plasma concentrations. We establish the role of LDHD by demonstrating that LDHD loss-of-function in zebrafish results in increased concentrations of D-lactate. D-lactate levels are rescued by wildtype LDHD but not by patients' variant LDHD, confirming these variants' loss-of-function effect. This work provides the first in vivo evidence that LDHD is responsible for human D-lactate metabolism. This broadens the differential diagnosis of D-lactic acidosis, an increasingly recognized complication of short bowel syndrome with unpredictable onset and severity. With the expanding incidence of intestinal resection for disease or obesity, the elucidation of this metabolic pathway may have relevance for those patients with D-lactic acidosis.

Published
2019

45. Phenotype delineation of ZNF462 related syndrome

Author

Kruszka, Paul, Hu, Tommy, Hong, Sungkook, Signer, Rebecca, Cogne, Benjamin, Isidor, Betrand, Mazzola, Sarah E., Giltay, Jacques C., van Gassen, Koen L. I., England, Eleina M., Pais, Lynn, Ockeloen, Charlotte W., Sanchez-Lara, Pedro A., Kinning, Esther, Adams, Darius J., Treat, Kayla, Torres-Martinez, Wilfredo, Bedeschi, Maria F., Iascone, Maria, Blaney, Stephanie, Bell, Oliver, Tan, Tiong Y., Delrue, Marie-Ange, Jurgens, Julie, Barry, Brenda J., Engle, Elizabeth C., Savage, Sarah K., Fleischer, Nicole, Martinez-Agosto, Julian A., Boycott, Kym, Zackai, Elaine H., Muenke, Maximilian, Kruszka, Paul, Hu, Tommy, Hong, Sungkook, Signer, Rebecca, Cogne, Benjamin, Isidor, Betrand, Mazzola, Sarah E., Giltay, Jacques C., van Gassen, Koen L. I., England, Eleina M., Pais, Lynn, Ockeloen, Charlotte W., Sanchez-Lara, Pedro A., Kinning, Esther, Adams, Darius J., Treat, Kayla, Torres-Martinez, Wilfredo, Bedeschi, Maria F., Iascone, Maria, Blaney, Stephanie, Bell, Oliver, Tan, Tiong Y., Delrue, Marie-Ange, Jurgens, Julie, Barry, Brenda J., Engle, Elizabeth C., Savage, Sarah K., Fleischer, Nicole, Martinez-Agosto, Julian A., Boycott, Kym, Zackai, Elaine H., and Muenke, Maximilian

Published
2019

46. Aminoacyl-tRNA synthetase deficiencies in search of common themes

Author

Fuchs, Sabine A., Schene, Imre F., Kok, Gautam, Jansen, Jurriaan M., Nikkels, Peter G.J., Gassen, Koen L. I. van, Vries, M.C. de, Koolen, D.A., Mulder, Margot F., Hasselt, Peter M. van, Fuchs, Sabine A., Schene, Imre F., Kok, Gautam, Jansen, Jurriaan M., Nikkels, Peter G.J., Gassen, Koen L. I. van, Vries, M.C. de, Koolen, D.A., Mulder, Margot F., and Hasselt, Peter M. van

Abstract

Item does not contain fulltext

Published
2019

47. De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

Author

Blok, Lot Snijders, Kleefstra, Tjitske, Venselaar, Hanka, Maas, Saskia, Kroes, Hester Y., Lachmeijer, Augusta M. A., van Gassen, Koen L., I, Firth, Helen, V, Tomkins, Susan, Bodek, Simon, Study, The D. D. D., Ounap, Katrin, Wojcik, Monica H., Cunniff, Christopher, Bergstrom, Katherine, Powis, Zoe, Tang, Sha, Shinde, Deepali N., Au, Catherine, Iglesias, Alejandro D., Izumi, Kosuke, Leonard, Jacqueline, Abou Tayoun, Ahmad, Baker, Samuel W., Tartaglia, Marco, Niceta, Marcello, Dentici, Maria Lisa, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Vitobello, Antonio, Faivre, Laurence, Philippe, Christophe, Gilissen, Christian, Wiel, Laurens, Pfundt, Rolph, Deriziotis, Pelagia, Brunner, Han G., Fisher, Simon E., Blok, Lot Snijders, Kleefstra, Tjitske, Venselaar, Hanka, Maas, Saskia, Kroes, Hester Y., Lachmeijer, Augusta M. A., van Gassen, Koen L., I, Firth, Helen, V, Tomkins, Susan, Bodek, Simon, Study, The D. D. D., Ounap, Katrin, Wojcik, Monica H., Cunniff, Christopher, Bergstrom, Katherine, Powis, Zoe, Tang, Sha, Shinde, Deepali N., Au, Catherine, Iglesias, Alejandro D., Izumi, Kosuke, Leonard, Jacqueline, Abou Tayoun, Ahmad, Baker, Samuel W., Tartaglia, Marco, Niceta, Marcello, Dentici, Maria Lisa, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Vitobello, Antonio, Faivre, Laurence, Philippe, Christophe, Gilissen, Christian, Wiel, Laurens, Pfundt, Rolph, Deriziotis, Pelagia, Brunner, Han G., and Fisher, Simon E.

Published
2019

48. Aminoacyl-tRNA synthetase deficiencies in search of common themes

Author

Fuchs, Sabine A, Schene, Imre F, Kok, Gautam, Jansen, Jurriaan M, Nikkels, Peter G J, van Gassen, Koen L I, Terheggen-Lagro, Suzanne W J, van der Crabben, Saskia N, Hoeks, Sanne E, Niers, Laetitia E M, Wolf, Nicole I, de Vries, Maaike C, Koolen, David A, Houwen, Roderick H J, Mulder, Margot F, van Hasselt, Peter M, Fuchs, Sabine A, Schene, Imre F, Kok, Gautam, Jansen, Jurriaan M, Nikkels, Peter G J, van Gassen, Koen L I, Terheggen-Lagro, Suzanne W J, van der Crabben, Saskia N, Hoeks, Sanne E, Niers, Laetitia E M, Wolf, Nicole I, de Vries, Maaike C, Koolen, David A, Houwen, Roderick H J, Mulder, Margot F, and van Hasselt, Peter M

Published
2019

49. Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects : Clinical and biochemical responses

Author

Scalais, Emmanuel, Osterheld, Elise, Geron, Christine, Pierron, Charlotte, Chafai, Ronit, Schlesser, Vincent, Borde, Patricia, Regal, Luc, Laeremans, Hilde, van Gassen, Koen L I, van den Heuvel, L Bert, De Meirleir, Linda, Scalais, Emmanuel, Osterheld, Elise, Geron, Christine, Pierron, Charlotte, Chafai, Ronit, Schlesser, Vincent, Borde, Patricia, Regal, Luc, Laeremans, Hilde, van Gassen, Koen L I, van den Heuvel, L Bert, and De Meirleir, Linda

Published
2019

50. Phenotype delineation of ZNF462 related syndrome

Author

Kruszka, Paul, Hu, Tommy, Hong, Sungkook, Signer, Rebecca, Cogne, Benjamin, Isidor, Betrand, Mazzola, Sarah E., Giltay, Jacques C., van Gassen, Koen L. I., England, Eleina M., Pais, Lynn, Ockeloen, Charlotte W., Sanchez-Lara, Pedro A., Kinning, Esther, Adams, Darius J., Treat, Kayla, Torres-Martinez, Wilfredo, Bedeschi, Maria F., Iascone, Maria, Blaney, Stephanie, Bell, Oliver, Tan, Tiong Y., Delrue, Marie-Ange, Jurgens, Julie, Barry, Brenda J., Engle, Elizabeth C., Savage, Sarah K., Fleischer, Nicole, Martinez-Agosto, Julian A., Boycott, Kym, Zackai, Elaine H., Muenke, Maximilian, Kruszka, Paul, Hu, Tommy, Hong, Sungkook, Signer, Rebecca, Cogne, Benjamin, Isidor, Betrand, Mazzola, Sarah E., Giltay, Jacques C., van Gassen, Koen L. I., England, Eleina M., Pais, Lynn, Ockeloen, Charlotte W., Sanchez-Lara, Pedro A., Kinning, Esther, Adams, Darius J., Treat, Kayla, Torres-Martinez, Wilfredo, Bedeschi, Maria F., Iascone, Maria, Blaney, Stephanie, Bell, Oliver, Tan, Tiong Y., Delrue, Marie-Ange, Jurgens, Julie, Barry, Brenda J., Engle, Elizabeth C., Savage, Sarah K., Fleischer, Nicole, Martinez-Agosto, Julian A., Boycott, Kym, Zackai, Elaine H., and Muenke, Maximilian

Published
2019

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