Risultati della ricerca - Oudakker, Astrid

Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia di Dam, Anika H. D. M. , Koscinski, Isabelle , Kremer, Jan A. M. , Moutou, Céline , Jaeger, Anne-Sophie , Oudakker, Astrid R. , Tournaye, Herman , Charlet, Nicolas , Lagier-Tourenne, Clotilde , van Bokhoven, Hans , Viville, Stéphane 

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Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome di Kleefstra, Tjitske, Brunner, Han G., Amiel, Jeanne, Oudakker, Astrid R., Nillesen, Willy M., Magee, Alex, Geneviève, David, Cormier-Daire, Valérie, van Esch, Hilde, Fryns, Jean-Pierre, Hamel, Ben C. J., Sistermans, Erik A., de Vries, Bert B. A., van Bokhoven, Hans

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Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders di Linda, Katrin, Lewerissa, Elly I., Verboven, Anouk H. A., Gabriele, Michele, Frega, Monica, Klein Gunnewiek, Teun M., Devilee, Lynn, Ulferts, Edda, Hommersom, Marina, Oudakker, Astrid, Schoenmaker, Chantal, van Bokhoven, Hans, Schubert, Dirk, Testa, Giuseppe, Koolen, David A., de Vries, Bert B.A., Nadif Kasri, Nael

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Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling di Frega, Monica, Linda, Katrin, Keller, Jason M., Gümüş-Akay, Güvem, Mossink, Britt, van Rhijn, Jon-Ruben, Negwer, Moritz, Klein Gunnewiek, Teun, Foreman, Katharina, Kompier, Nine, Schoenmaker, Chantal, van den Akker, Willem, van der Werf, Ilse, Oudakker, Astrid, Zhou, Huiqing, Kleefstra, Tjitske, Schubert, Dirk, van Bokhoven, Hans, Nadif Kasri, Nael

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A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy di de Brouwer, Arjan PM, Nabuurs, Sander B, Verhaart, Ingrid EC, Oudakker, Astrid R, Hordijk, Roel, Yntema, Helger G, Hordijk-Hos, Jannet M, Voesenek, Krysta, de Vries, Bert BA, van Essen, Ton, Chen, Wei, Hu, Hao, Chelly, Jamel, den Dunnen, Johan T, Kalscheuer, Vera M, Aartsma-Rus, Annemieke M, Hamel, Ben CJ, van Bokhoven, Hans, Kleefstra, Tjitske

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ZNF674: A New Krüppel-Associated Box–Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation di Lugtenberg, Dorien, Yntema, Helger G., Banning, Martijn J. G., Oudakker, Astrid R., Firth, Helen V., Willatt, Lionel, Raynaud, Martine, Kleefstra, Tjitske, Fryns, Jean-Pierre, Ropers, Hans-Hilger, Chelly, Jamel, Moraine, Claude, Gécz, Jozef, Reeuwijk, Jeroen van, Nabuurs, Sander B., de Vries, Bert B. A., Hamel, Ben C. J., de Brouwer, Arjan P. M., Bokhoven, Hans van

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Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome di Iqbal, Zafar, Cejudo-Martin, Pilar, de Brouwer, Arjan, van der Zwaag, Bert, Ruiz-Lozano, Pilar, Scimia, M. Cecilia, Lindsey, James D., Weinreb, Robert, Albrecht, Beate, Megarbane, Andre, Alanay, Yasemin, Ben-Neriah, Ziva, Amenduni, Mariangela, Artuso, Rosangela, Veltman, Joris A., van Beusekom, Ellen, Oudakker, Astrid, Millán, José Luis, Hennekam, Raoul, Hamel, Ben, Courtneidge, Sara A., van Bokhoven, Hans

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Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy di Lugtenberg, Dorien, Kleefstra, Tjitske, Oudakker, Astrid R, Nillesen, Willy M, Yntema, Helger G, Tzschach, Andreas, Raynaud, Martine, Rating, Dietz, Journel, Hubert, Chelly, Jamel, Goizet, Cyril, Lacombe, Didier, Pedespan, Jean-Michel, Echenne, Bernard, Tariverdian, Gholamali, O'Rourke, Declan, King, Mary D, Green, Andrew, van Kogelenberg, Margriet, Van Esch, Hilde, Gecz, Jozef, Hamel, Ben C J, van Bokhoven, Hans, de Brouwer, Arjan P M

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Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy di Lugtenberg, Dorien, Kleefstra, Tjitske, Oudakker, Astrid R, Nillesen, Willy M, Yntema, Helger G, Tzschach, Andreas, Raynaud, Martine, Rating, Dietz, Journel, Hubert, Chelly, Jamel, Goizet, Cyril, Lacombe, Didier, Pedespan, Jean-Michel, Echenne, Bernard, Tariverdian, Gholamali, O'Rourke, Declan, King, Mary D, Green, Andrew, van Kogelenberg, Margriet, Van Esch, Hilde, Gecz, Jozef, Hamel, Ben CJ, van Bokhoven, Hans, de Brouwer, Arjan PM

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Cadherin-13 is a critical regulator of GABAergic modulation in human stem-cell-derived neuronal networks di Mossink, Britt, van Rhijn, Jon-Ruben, Wang, Shan, Linda, Katrin, Vitale, Maria R., Zöller, Johanna E. M., van Hugte, Eline J. H., Bak, Jitske, Verboven, Anouk H. A., Selten, Martijn, Negwer, Moritz, Latour, Brooke L., van der Werf, Ilse, Keller, Jason M., Klein Gunnewiek, Teun M., Schoenmaker, Chantal, Oudakker, Astrid, Anania, Alessia, Jansen, Sophie, Lesch, Klaus-Peter, Frega, Monica, van Bokhoven, Hans, Schubert, Dirk, Nadif Kasri, Nael

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