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Entries: 1-3  
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MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.
Authors: Frints, Suzanna Gerarda Maria; Lenzner, Steffen; Bauters, Mareike; Jensen, Lars Riff; Van Esch, Hilde; des Portes, Vincent; Moog, Ute; Macville, Merryn Victor Erik; van Roozendaal, Kees; Schrander-Stumpel, Constance Theresia Rimbertha Maria; Tzschach, Andreas; Marynen, Peter; Fryns, Jean-Pierre; Hame, Ben; van Bokhoven, Hans; Chelly, Jamel; Beldjord, Chérif; Turner, Gillian; Gecz, Jozef; Moraine, Claude; Raynaud, Martine; Ropers, Hans Hilger; Froyen, Guy; Kuss, Andreas Walter
Date of Publication (YYYY-MM-DD): 2008-04-09
Title of Journal: European Journal of Human Genetics
Volume: 16
Issue / Number: 9
Start Page: 1029
End Page: 1037
Document Type: Article
ID: 407419.0
 
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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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ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.
Authors: Bienvenu, Thierry; Poirier, Karine; Friocourt, Gaelle; Bahi, Nadia; Beaumont, Delphine; Fauchereau, Fabien; Jeema, Lamia Ben; Zemni, Ramzi; Vinet, Marie-Claude; Francis, Fiona; Couvert, Philippe; Gomot, Marie; Moraine, Claude; Bokhoven, Hans van; Kalscheuer, Vera; Frints, Suzanne; Gecz, Josef; Ohzaki, Kanae; Chaabouni, Habiba; Fryns, Jean-Pierre; Desportes, Vincent; Beldjord, Cherif; Chelly, Jamel
Date of Publication (YYYY-MM-DD): 2002-04
Title of Journal: Human Molecular Genetics
Volume: 11
Issue / Number: 8
Start Page: 981
End Page: 991
Document Type: Article
ID: 24040.0
Entries: 1-3  
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