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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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ZNF674: a new KRAB-containing zinc finger gene involved in non-syndromic X-linked mental retardation
Authors: Lugtenberg, Dorien; Yntema, Helger G.; Banning, Martijn J. G.; Oudakker, Astrid R.; Firth, Helen V.; Willatt, Lionel; Raynaud, Martine; Kleefstra, Tjitske; Fryns, Jean-Pierre; Ropers, Hans-Hilger; Chelly, Jamel; Moraine, Claude; Gécz, Jozef; van Reeuwijk, Jeroen; Nabuurs, Sander B.; de Vries, Bert B. A.; Hamel, Ben C. J.; de Brouwer, Arjan P. M.; van Bokhoven, Hans
Date of Publication (YYYY-MM-DD): 2006-02-01
Title of Journal: American Journal of Human Genetics : : AJHG / American Society of Human Genetics
Volume: 78
Issue / Number: 2
Start Page: 265
End Page: 278
Document Type: Article
ID: 307723.0
 
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Entries: 1-2  
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