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: 1-4  
 Basket 
CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait
Authors: Türkmen, Seval; Guo, Gao; Garshasbi, Masoud; Hoffmann, Katrin; Alshalah, Amjad J.; Mischung, Claudia; Kuss, Andreas; Humphrey, Nicholas; Mundlos, Stefan; Robinson, Peter N.
Date of Publication (YYYY-MM-DD): 2009-05-22
Title of Journal: PLoS Genetics
Volume: 5
Start Page: e1000487
End Page: e1000487
Document Type: Article
ID: 473612.0
Alopecia-mental retardation syndrome: clinical and molecular characterization of four patients
Authors: Tzschach, Andreas; Bozorgmehr, B.; Hadavi, V.; Kahrizi, K.; Garshasbi, Masoud; Motazacker, M. M.; Ropers, Hans-Hilger; Kuss, Andreas; Najmabad, H.
Date of Publication (YYYY-MM-DD): 2008-07-04
Title of Journal: British Journal of Dermatology
Volume: 159
Issue / Number: 3
Start Page: 748
End Page: 751
Document Type: Article
ID: 411262.0
 
Full text / Content available
Novel JARID1C/SMCX mutations in patients with X-linked mental retardation
Authors: Tzschach, Andreas; Lenzner, Steffen; Moser, Bettina; Reinhardt, Richard; Chelly, Jamel; Fryns, Jean-Pierre; Kleefstra, Tjitske; Raynaud, Martine; Turner, Gillian; Ropers, Hans-Hilger; Kuss, Andreas; Jensen, Lars Riff
Date of Publication (YYYY-MM-DD): 2006-03-15
Title of Journal: Human Mutation
Volume: 27
Issue / Number: 4
Start Page: 389
End Page: 389
Document Type: Article
ID: 305408.0
 
Full text / Content available
Novel JARID1C/SMCX mutations in patients with X-linked mental retardation
Authors: Tzschach, Andreas; Lenzner, Steffen; Moser, Bettina; Reinhardt, Richard; Chelly, Jamel; Fryns, Jean-Pierre; Kleefstra, Tjitske; Raynaud, Martine; Turner, Gillian; Ropers, Hans-Hilger; Kuss, Andreas; Jensen, Lars Riff
Date of Publication (YYYY-MM-DD): 2006-03-15
Title of Journal: Human Mutation
Volume: 27
Issue / Number: 4
Start Page: 389
End Page: 389
Document Type: Article
ID: 305410.0
 
Full text / Content available
Entries: 1-4  
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.