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Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium |
Authors: de Brouwer, Arjan P.M.; Yntema, Helger G.; Kleefstra, Tjitske; Lugtenberg, Dorien; Oudakker, Astrid R.; de Vries, Bert B. A.; van Bokhoven, Hans; van Esch, Hilde; Frints, Suzanne G. M.; Froyen, Guy; Fryns, Jean-Pierre; Raynaud, Martine; Moizard, Marie-Pierre; Ronce, Nathalie; Bensalem, Anissa; Moraine, Claude; Poirier, Karine; Castelnau, Laetitia; Saillour, Yoann; Bienvenu, Thierry; Beldjord, Chérif; des Portes, Vincent; Chelly, Jamel; Turner, Gillian; Fullston, Tod; Gecz, Jozef; Kuss, Andreas W.; Tzschach, Andreas; Jensen, Lars Riff; Lenzner, Steffen; Kalscheuer, Vera M.; Ropers, Hans-Hilger; Hamel, Ben C.J. | Date of Publication (YYYY-MM-DD): 2007-01-12 | Title of Journal: Human Mutation | Volume: 28 | Issue / Number: 2 | Start Page: 207 | End Page: 208 | Document Type: Article | ID: 333783.0 |
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X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family |
Authors: Laumonnier, Frédéric; Bonnet-Brilhault, Frédérique; Gomot, Marie; Blanc, Romuald; David, Albert; Moizard, Marie-Pierre; Raynaud, Martine; Ronce, Nathalie; Lemonnier, Eric; Calvas, Patrick; Laudier, Béatrice; Chelly, Jamel; Fryns, Jean-Pierre; Ropers, Hans-Hilger; Hamel, Ben C. J.; Andres, Christian; Barthélémy, Catherine; Moraine, Claude; Briault, Sylvain | Date of Publication (YYYY-MM-DD): 2004-02-12 | Title of Journal: American Journal of Human Genetics | Volume: 74 | Issue / Number: 3 | Start Page: 552 | End Page: 557 | Document Type: Article | ID: 224730.0 |
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Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency |
Authors: Laumonnier, Frédéric; Ronce, Nathalie; Hamel, Ben C. J.; Thomas, Paul; Jespinasse, James; Raynaud, Martine; Paringaux, Christine; Bokhoven, Hans van; Kalscheuer, Vera; Fryns, Jean-Pierre; Chelly, Jamel; Moraine, Claude; Briault, Sylvain | Date of Publication (YYYY-MM-DD): 2002-12 | Title of Journal: American Journal of Human Genetics | Volume: 71 | Issue / Number: 6 | Start Page: 1450 | End Page: 1455 | Document Type: Article | ID: 24162.0 |
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