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Clinical Genetics|February 11, 2018
Characteristics of genetic diseases in consanguineous populations in the genomic era: Lessons from Arab communities in North IsraelS A ShalevAmerican Journal of Medical Genetics|September 14, 1999
Osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): further delineationS A Shalev, E Shalev, D Reich, et al.Annals of Human Genetics|March 3, 2007
The fate of 12 recessive mutations in a single villageJ Zlotogora, Y Hujerat, S Barges, et al.Journal of Medical Genetics|May 29, 2010
Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humansM J Nevet, S A Shalev, J Zlotogora, et al.The Journal of Clinical Endocrinology and Metabolism|November 4, 2000
Mutations in the steroidogenic acute regulatory protein (StAR) in six patients with congenital lipoid adrenal hyperplasiaH S Bose, S Sato, J Aisenberg, et al.Prenatal Diagnosis|August 24, 2006
Evidence for blood chimerism in dizygotic spontaneous twin pregnancy discordant for Down syndromeS A Shalev, E Shalev, E Pras, et al.Journal of Inherited Metabolic Disease|March 21, 2007
Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutationR Spiegel, A Shaag, A Gutman, et al.Clinical Genetics|January 13, 2016
DMRTA2 (DMRT5) is mutated in a novel cortical brain malformationJ E Urquhart, G Beaman, H Byers, et al.Clinical Genetics|March 13, 2016
Expanding the genotypic spectrum of Perrault syndromeL A M Demain, J E Urquhart, J O'Sullivan, et al.Pageof 1