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: 1-2  
 Basket 
Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.
Authors: Graul-Neumann, L. M.; Kienitz, T.; Robinson, P. N.; Baasanjav, S.; Karow, B.; Gillessen-Kaesbach, G.; Fahsold, R.; Schmidt, H.; Hoffmann, K.; Passarge, E.
Date of Publication (YYYY-MM-DD): 2010-11-01
Title of Journal: American Journal of Medical Genetics Part A
Volume: 152A
Issue / Number: 11
Start Page: 2749
End Page: 2755
Document Type: Article
ID: 539679.0
 
Full text / Content available
Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein.
Authors: Clayton, P.; Fischer, B.; Mann, A.; Mansour, S.; Rossier, E.; Veen, M.; Lang, C.; Baasanjav, S.; Kieslich, M.; Brossuleit, K.; Gravemann, S.; Schnipper, N.; Karbasyian, M.; Demuth, I.; Zwerger, M.; Vaya, A.; Utermann, G.; Mundlos, S.; Stricker, S.; Sperling, K.; Hoffmann, K.
Date of Publication (YYYY-MM-DD): 2010-05-21
Title of Journal: Nucleus
Volume: 1
Issue / Number: 4
Start Page: 354
End Page: 366
Document Type: Article
ID: 540985.0
 
Full text / Content available
Entries: 1-2  
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.