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Browsing by Author Elzen, C. van den

Full Text	Issue Date	Title	Author(s)
	2012	Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan	Roscioli, T.; Reeuwijk, J. van; Elzen, C. van den; Beusekom, E. van; Pfundt, R., et al
	2011	Familial neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin II gene	Fost, M. de; Trotsenburg, A.S. van; Santen, H.M. van; Endert, E.; Elzen, C. van den, et al
	2010	A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum.	Reeuwijk, J. van; Olderode-Berends, M.J.; Elzen, C. van den; Brouwer, O.F.; Roscioli, T., et al
	2009	Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.	Lefeber, D.J.; Schonberger, J.; Morava, E.; Guillard, M.; Huyben, C.M.L.C., et al
	2009	Constitutional DNA copy number changes in ICSI children.	Woldringh, G.H.; Janssen, I.M.; Hehir-Kwa, J.Y.; Elzen, C. van den; Kremer, J.A.M., et al
	2005	POMT2 mutations cause {alpha}-dystroglycan hypoglycosylation and Walker-Warburg syndrome	Reeuwijk, J. van; Janssen, M.; Elzen, C. van den; Beltran Valero de Bernabe, D.; Sabatelli, P., et al