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Entries: 1-3  
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Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
Authors: Endele, Sabine; Rosenberger, Georg; Geider, Kirsten; Popp, Bernt; Tamer, Ceyhun; Stefanova, Irina; Milh, Mathieu; Kortüm, Fanny; Fritsch, Angela; Pientka, Friederike K; Hellenbroich, Yorck; Kalscheuer, Vera M; Kohlhase, Jürgen; Moog, Ute; Rappold, Gudrun; Rauch, Anita; Ropers, Hans-Hilger; von Spiczak, Sarah; Tönnies, Holger; Villeneuve, Nathalie; Villard, Laurent; Zabel, Bernhard; Zenker, Martin; Laube, Bodo; Reis, André; Wieczorek, Dagmar; Van Maldergem, Lionel; Kutsche, Kerstin
Date of Publication (YYYY-MM-DD): 2010-10-03
Title of Journal: Nature Genetics.
Volume: 42
Issue / Number: 11
Start Page: 1021
End Page: 1026
Document Type: Article
ID: 532578.0
 
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Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
Authors: Berkel, Simone; Marshall, Christian R.; Weiss, Birgit; Howe, Jennifer; Roeth, Ralph; Moog, Ute; Endris, Volker; Roberts, Wendy; Szatmari, Peter; Pinto, Dalila; Bonin, Michael; Riess, Angelika; Engels, Hartmut; Sprengel, Rolf; Scherer, Stephen W.; Rappold, Gudrun A.
Date of Publication (YYYY-MM-DD): 2010-05-16
Title of Journal: Nature Genetics
Volume: 42
Issue / Number: 6
Start Page: 489
End Page: 491
Document Type: Article
ID: 545955.0
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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Entries: 1-3  
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