Please note that eDoc will be permanently shut down in the first quarter of 2021!      Home News About Us Contact Contributors Disclaimer Privacy Policy Help FAQ

Home
Search
Quick Search
Advanced
Fulltext
Browse
Collections
Persons
My eDoc
Session History
Login
Name:
Password:
Documentation
Help
Support Wiki
Direct access to
document ID:


          Display Documents


Institute:
Collection:
Print in Citation style Print version     Display:
Sort by: Display records with Fulltext only
Entries: 1-5  
 Basket 
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  
The scope and number of records on eDoc is subject to the collection policies defined by each institute - see "info" button in the collection browse view.