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Therapeutic Advances in Rare Disease|July 31, 2024
Koolen-de Vries Syndrome: a journey from diagnosis to treatmentsAnna C Pfalzer, Blake Ivers, Alayna Haynam, et al.
European Journal of Clinical Investigation|June 18, 2016
Leucocyte-bound apolipoprotein B in the circulation is inversely associated with the presence of clinical and subclinical atherosclerosisMarijke A de Vries, Boudewijn Klop, Noëlle van der Meulen, et al.
Human Molecular Genetics|December 23, 2020
De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalusMaria J Nabais Sá, Alexandra N Olson, Grace Yoon, et al.
Human Mutation|December 17, 2008
Genomic microarrays in mental retardation: a practical workflow for diagnostic applicationsDavid A Koolen, Rolph Pfundt, Nicole de Leeuw, et al.
JAMA Ophthalmology|May 17, 2014
Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1Anna M Siemiatkowska, Janneke H M Schuurs-Hoeijmakers, Danielle G M Bosch, et al.
European Journal of Human Genetics : EJHG|July 12, 2020
Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disordersIlse M van der Werf, Sandra Jansen, Petra F de Vries, et al.
Zentralblatt Fur Chirurgie|May 23, 2007
[Quality indicators for diagnostic and therapy of rectal carcinoma]R Bittner, J Burghardt, E Gross, et al.
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