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Entries: 1-5  
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
Full text / Content available
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
Full text / Content available
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
Full text / Content available
Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly
Authors: Shoichet, Sarah A.; Kunde, Stella-Amrei; Viertel, Petra; Schell-Apacik, Can; von Voss, Hubertus; Tommerup, Niels; Ropers, Hans-Hilger; Kalscheuer, Vera M.
Date of Publication (YYYY-MM-DD): 2005-08-17
Title of Journal: Human Genetics
Volume: 117
Issue / Number: 6
Start Page: 536
End Page: 544
Document Type: Article
ID: 271590.0
Full text / Content available
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
Entries: 1-5  
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