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Browsing by Author Kornak, U.

Full Text	Issue Date	Title	Author(s)
	2011	Metabolic cutis laxa syndromes	Mohamed, M.; Kouwenberg, D.; Gardeitchik, T.; Kornak, U.; Wevers, R.A., et al
	2011	NOA1 is an essential GTPase required for mitochondrial protein synthesis.	Kolanczyk, M.; Pech, M.; Zemojtel, T.; Yamamoto, H.; Mikula, I., et al
	2011	Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family	Morava, E.; Kuhnisch, J.; Drijvers, J.M.; Robben, J.H.; Cremers, C.W.R.J., et al
	2010	The 2nd Berlin BedRest Study: protocol and implementation.	Belavy, D.L.; Bock, O.; Borst, H.; Armbrecht, G.; Gast, U., et al
	2010	MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking.	Albrecht, B.; Brouwer, A.P.M. de; Lefeber, D.J.; Cremer, K.; Hausser, I., et al
	2009	Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.	Hucthagowder, V.; Morava, E.; Kornak, U.; Lefeber, D.J.; Fischer, B., et al
	2009	Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa.	Guillard, M.; Dimopoulou, A.; Fischer, B.; Morava, E.; Lefeber, D.J., et al
	2008	Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.	Kornak, U.; Reynders, E.; Dimopoulou, A.; Reeuwijk, J. van; Fischer, B., et al