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Mutations in Autism Susceptibility Candidate 2 (AUTS2) in patients with mental retardation |
Authors: Kalscheuer, Vera M.; FitzPatrick, David; Tommerup, Niels; Bugge, Merete; Niebuhr, Erik; Neumann, Luitgard M.; Tzschach, Andreas; Shoichet, Sarah A.; Menzel, Corinna; Erdogan, Fikret; Arkesteijn, Ger; Ropers, Hans-Hilger; Ullmann, Reinhard | Date of Publication (YYYY-MM-DD): 2007-01-09 | Title of Journal: Human Genetics | Volume: 121 | Issue / Number: 3-4 | Start Page: 501 | End Page: 509 | Document Type: Article | ID: 334101.0 |
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A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome |
Authors: Budny, Bartlomiej; Chen, Wei; Omran, Heymut; Fliegauf, Manfred; Tzschach, Andreas; Wisniewska, Marzena; Jensen, Lars R.; Raynaud, Martine; Shoichet, Sarah A.; Badura, Magda; Lenzner, Steffen; Latos-Bielenska, Anna; Ropers, Hans-Hilger | Date of Publication (YYYY-MM-DD): 2006-06-17 | Title of Journal: Human Genetics | Volume: 120 | Issue / Number: 2 | Start Page: 171 | End Page: 178 | Document Type: Article | ID: 307327.0 |
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Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy |
Authors: Shoichet, Sarah A.; Duprez, Laurence; Hagens, Olivier; Waetzig, Vicki; Menzel, Corinna; Herdegen, Thomas; Schweiger, Susann; Dan, Bernard; Vamos, Esther; Ropers, Hans-Hilger; Kalscheuer, Vera M. | Date of Publication (YYYY-MM-DD): 2006-01-01 | Title of Journal: Human Genetics | Volume: 118 | Issue / Number: 5 | Start Page: 559 | End Page: 567 | Document Type: Article | ID: 308502.0 |
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Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation |
Authors: Shoichet, Sarah A.; Hoffmann, Kirsten; Menzel, Corinna; Trautmann, Udo; Moser, Bettina; Hoeltzenbein, Maria; Echenne, Bernard; van Bokhoven, Hans; Moraine, Claude; Fryns, Jean-Pierre; Chelly, Jamel; Rott, Hans-Dieter; Ropers, Hans-Hilger; Kalscheuer, Vera M. | Date of Publication (YYYY-MM-DD): 2003-11 | Title of Journal: American Journal of Human Genetics | Volume: 73 | Issue / Number: 6 | Start Page: 1341 | End Page: 1354 | Document Type: Article | ID: 173608.0 |
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