4 results on '"Bilan, Frederic"'
Search Results
2. De novo missense variants in SLC32A1 cause a neurodevelopmental disorder with epilepsy due to impaired GABAergic neurotransmission
- Author
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Platzer, Konrad, primary, Sticht, Heinrich, additional, Bupp, Caleb, additional, Ganapathi, Mythily, additional, Pereira, Elaine M., additional, Le Guyader, Gwenaël, additional, Bilan, Frederic, additional, Henderson, Lindsay B., additional, Taschenberger, Holger, additional, Brose, Nils, additional, Jamra, Rami Abou, additional, and Wojcik, Sonja M., additional
- Published
- 2021
- Full Text
- View/download PDF
3. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
- Author
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Johannesen, Katrine M, primary, Liu, Yuanyuan, additional, Gjerulfsen, Cathrine E, additional, Koko, Mahmoud, additional, Sonnenberg, Lukas, additional, Schubert, Julian, additional, Fenger, Christina D, additional, Eltokhi, Ahmed, additional, Rannap, Maert, additional, Koch, Nils A., additional, Lauxmann, Stephan, additional, Krüger, Johanna, additional, Kegele, Josua, additional, Canafoglia, Laura, additional, Franceschetti, Silvana, additional, Mayer, Thomas, additional, Rebstock, Johannes, additional, Zacher, Pia, additional, Ruf, Susanne, additional, Alber, Michael, additional, Sterbova, Katalin, additional, Lassuthová, Petra, additional, Vlckova, Marketa, additional, Lemke, Johannes R, additional, Krey, Ilona, additional, Heine, Constanze, additional, Wieczorek, Dagmar, additional, Kroell-Seger, Judith, additional, Lund, Caroline, additional, Klein, Karl Martin, additional, Au, PY Billie, additional, Rho, Jong M, additional, Ho, Alice W, additional, Masnada, Silvia, additional, Veggiotti, Pierangelo, additional, Giordano, Lucio, additional, Accorsi, Patrizia, additional, Hoei-Hansen, Christina E, additional, Striano, Pasquale, additional, Zara, Federico, additional, Verhelst, Helene, additional, S.Verhoeven, Judith, additional, van der Zwaag, Bert, additional, Harder, Aster V. E., additional, Brilstra, Eva, additional, Pendziwiat, Manuela, additional, Lebon, Sebastian, additional, Vaccarezza, Maria, additional, Le, Ngoc Minh, additional, Christensen, Jakob, additional, Schmidt-Petersen, Mette U, additional, Grønborg, Sabine, additional, Scherer, Stephen W, additional, Howe, Jennifer, additional, Fazeli, Walid, additional, Howell, Katherine B, additional, Leventer, Richard, additional, Stutterd, Chloe, additional, Walsh, Sonja, additional, Gerard, Marion, additional, Gerard, Bénédicte, additional, Matricardi, Sara, additional, Bonardi, Claudia M, additional, Sartori, Stefano, additional, Berger, Andrea, additional, Hoffman-Zacharska, Dorota, additional, Mastrangelo, Massimo, additional, Darra, Francesca, additional, Vøllo, Arve, additional, Motazacker, M Mahdi, additional, Lakeman, Phillis, additional, Nizon, Mathilde, additional, Betzler, Cornelia, additional, Altuzarra, Cecilia, additional, Caume, Roseline, additional, Roubertie, Agathe, additional, Gélisse, Philippe, additional, Marini, Carla, additional, Guerrini, Renzo, additional, Bilan, Frederic, additional, Tibussek, Daniel, additional, Koch-Hogrebe, Margarete, additional, Perry, M Scott, additional, Ichikawa, Shoji, additional, Dadali, Elena, additional, Sharkov, Artem, additional, Mishina, Irina, additional, Abramov, Mikhail, additional, Kanivets, Ilya, additional, Korostelev, Sergey, additional, Kutsev, Sergey, additional, Wain, Karen E, additional, Eisenhauer, Nancy, additional, Wagner, Monisa, additional, Savatt, Juliann M, additional, Müller-Schlüter, Karen, additional, Bassan, Haim, additional, Borovikov, Artem, additional, Nassogne, Marie-Cecile, additional, Destrée, Anne, additional, Schoonjans, An-Sofie, additional, Meuwissen, Marije, additional, Buzatu, Marga, additional, Jansen, Anna, additional, Scalais, Emmanuel, additional, Srivastava, Siddharth, additional, Tan, Wen-Hann, additional, Olson, Heather E, additional, Loddenkemper, Tobias, additional, Poduri, Annapurna, additional, Helbig, Katherine L, additional, Helbig, Ingo, additional, Fitzgerald, Mark P, additional, Goldberg, Ethan M, additional, Roser, Timo, additional, Borggraefe, Ingo, additional, Brünger, Tobias, additional, May, Patrick, additional, Lal, Dennis, additional, Lederer, Damien, additional, Rubboli, Guido, additional, Lesca, Gaetan, additional, Hedrich, Ulrike BS, additional, Benda, Jan, additional, Gardella, Elena, additional, Lerche, Holger, additional, and Møller, Rikke S, additional
- Published
- 2021
- Full Text
- View/download PDF
4. Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
- Author
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Mannucci, Ilaria, primary, Dang, Nghi D. P., additional, Huber, Hannes, additional, Murry, Jaclyn B., additional, Abramson, Jeff, additional, Althoff, Thorsten, additional, Banka, Siddharth, additional, Baynam, Gareth, additional, Bearden, David, additional, Beleza, Ana, additional, Benke, Paul J., additional, Berland, Siren, additional, Bierhals, Tatjana, additional, Bilan, Frederic, additional, Bindoff, Laurence A., additional, Braathen, Geir Julius, additional, L. Busk, Øyvind, additional, Chenbhanich, Jirat, additional, Denecke, Jonas, additional, Escobar, Luis F., additional, Estes, Caroline, additional, Fleischer, Julie, additional, Groepper, Daniel, additional, Haaxma, Charlotte A., additional, Hempel, Maja, additional, Holler-Managan, Yolanda, additional, Houge, Gunnar, additional, Jackson, Adam, additional, Kellogg, Laura, additional, Keren, Boris, additional, Kiraly-Borri, Catherine, additional, Kraus, Cornelia, additional, Kubisch, Christian, additional, Le Guyader, Gwenael, additional, Ljungblad, Ulf W., additional, Brenman, Leslie Manace, additional, Martinez-Agosto, Julian A., additional, Might, Matthew, additional, Miller, David T., additional, Minks, Kelly Q., additional, Moghaddam, Billur, additional, Nava, Caroline, additional, Nelson, Stanley F., additional, Parant, John M., additional, Prescott, Trine, additional, Rajabi, Farrah, additional, Randrianaivo, Hanitra, additional, Reiter, Simone F., additional, Schuurs-Hoeijmakers, Janneke, additional, Shieh, Perry B., additional, Slavotinek, Anne, additional, Smithson, Sarah, additional, Stegmann, Alexander P.A, additional, Tomczak, Kinga, additional, Tveten, Kristian, additional, Wang, Jun, additional, Whitlock, Jordan H., additional, Zweier, Christiane, additional, McWalter, Kirsty, additional, Juusola, Jane, additional, Quintero-Rivera, Fabiola, additional, Fischer, Utz, additional, Yeo, Nan Cher, additional, Kreienkamp, Hans-Jürgen, additional, and Lessel, Davor, additional
- Published
- 2020
- Full Text
- View/download PDF
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