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Entries: 1-5  
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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
 
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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  
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