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

Quick Search
My eDoc
Session History
Support Wiki
Direct access to
document ID:

          Display Documents

Print in Citation style Print version     Display:
Sort by: Display records with Fulltext only
Entries: 1-5  
MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking.
Authors: Albrecht, Beate; de Brouwer, Arjan P.; Lefeber, Dirk J.; Cremer, Kirsten; Hausser, Ingrid; Rossen, Nick; Wortmann, Saskia B.; Wevers, Ron A.; Kornak, Uwe; Morava, Eva
Date of Publication (YYYY-MM-DD): 2010-10-15
Title of Journal: American Journal of Medical Genetics. Part A.
Volume: 152A
Issue / Number: 11
Start Page: 2916
End Page: 2918
Document Type: Article
ID: 536210.0
Full text / Content available
Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa
Authors: Guillard, Mailys; Dimopoulou, Aikaterini; Fischer, Björn; Morava, Eva; Lefeber, Dirk J.; Kornak, Uwe; Wevers, Ron A.
Date of Publication (YYYY-MM-DD): 2009-09
Title of Journal: Biochimica et Biophysica Acta - Molecular Basis of Disease
Volume: 1792
Start Page: 903
End Page: 914
Document Type: Article
ID: 447308.0
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival
Authors: Hucthagowder, Vishwanathan; Morava, Eva; Kornak, Uwe; Lefeber, Dirk J.; Fischer, Björn; Dimopoulou, Aikaterini; Aldinger, Annika; Choi, Jiwon; Davis, Elaine C.; Abuelo, Dianne N.; Adamowicz, Maciej; Al-Aama, Jumana; Basel-Vanagaite, Lina; Fernandez, Bridget; Greally, Marie T.; Gillessen-Kaesbach, Gabriele; Kayserili, Hulya; Lemyre, Emmanuelle; Tekin, Mustafa; Türkmen, Seval; Tuysuz, Beyhan; Yüksel-Konuk, Berrin; Mundlos, Stefan; Van Maldergem, Lionel; Wevers, Ron A.; Urban, Zsolt
Date of Publication (YYYY-MM-DD): 2009-06
Title of Journal: Human Molecular Genetics
Volume: 18
Issue / Number: 12
Start Page: 2149
End Page: 2165
Document Type: Article
ID: 447495.0
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2
Authors: Kornak, Uwe; Reynders, Ellen; Dimopoulou, Aikaterini; van Reeuwijk, Jeroen; Fischer, Bjoern; Rajab, Anna; Budde, Birgit; Nürnberg, Peter; Foulquier, Francois; Lefeber, Dirk; Urban, Zsolt; Gruenewald, Stephanie; Annaert, Wim; Brunner, Han G; van Bokhoven, Hans; Wevers, Ron; Morava, Eva; Matthijs, Gert; Van Maldergem, Lionel; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2008-01
Title of Journal: Nature Genetics
Volume: 40
Issue / Number: 1
Start Page: 32
End Page: 34
Document Type: Article
ID: 411701.0
Full text / Content available
Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia
Authors: Morava, Éva; Kárteszi, Judit; Weisenbach, János; Caliebe, Almuth; Mundlos, Stefan; Méhes, Károly
Date of Publication (YYYY-MM-DD): 2002-11
Title of Journal: European Journal of Pediatrics
Volume: 161
Issue / Number: 11
Start Page: 619
End Page: 622
Document Type: Article
ID: 25642.0
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.