ProfileOfResearchers

TITLE: Golgi function and dysfunction in the first COG4-deficient CDG type II patient
AUTHORS: Ellen Reynders; Francois Foulquier; Elisa Leao Teles; Dulce Quelhas; Willy Morelle; Catherine Rabouille; Wim Annaert; Gert Matthijs;
PUBLISHED: 2009, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 18, ISSUE: 17

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TITLE: Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2 Full Text
AUTHORS: Uwe Kornak; Ellen Reynders; Aikaterini Dimopoulou; Jeroen van Reeuwijk; Bjoern Fischer; Anna Rajab; Birgit Budde; Peter Nürnberg; Francois Foulquier; William B Dobyns; Dulce Quelhas; Laura Vilarinho; Elisa Leao-Teles; Marie Greally; Eva Seemanova; Martina Simandlova; Mustafa Salih; Arti Nanda; Lina Basel-Vanagaite; Hulya Kayserili; Memmune Yuksel-Apak; Marc Larregue; Jacqueline Vigneron; Sanda Giurgea; Uwe Kornak; Stefan Mundlos; Dirk Lefeber; Zsolt Urban; Stephanie Gruenewald; Wim Annaert; Han G Brunner; Hans van Bokhoven; Ron Wevers; Eva Morava; Gert Matthijs; Lionel Van Maldergem; Stefan Mundlos; ...More
PUBLISHED: 2008, SOURCE: Nature Genetics, VOLUME: 40, ISSUE: 1

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