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American Journal of Medical Genetics. Part A|November 22, 2017
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patientsRüstem Yilmaz, Katalin Szakszon, Anna Altmann, et al.European Journal of Endocrinology|April 5, 2012
Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutationsSally Tantawy, Lin Lin, Ilker Akkurt, et al.Human Genetics|September 15, 2014
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephalyNaseebullah Kakar, Jamil Ahmad, Deborah J Morris-Rosendahl, et al.Journal of the Endocrine Society|December 19, 2018
Functional and Phenotypic Characteristics of Human Leptin Receptor MutationsAdriana Nunziata, Jan-Bernd Funcke, Guntram Borck, et al.Human Genetics|October 23, 2010
A homozygous RAB3GAP2 mutation causes Warburg Micro syndromeGuntram Borck, Heidrun Wunram, Angela Steiert, et al.Human Genetics|November 2, 2017
Mutations of PTPN23 in developmental and epileptic encephalopathyNadine Sowada, Mais Omar Hashem, Rüstem Yilmaz, et al.Molecular Vision|August 19, 2011
Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patientsAlexander E Volk, Oliver Carter, Julia Fricke, et al.Human Mutation|April 23, 2008
Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndromeGuntram Borck, Anahi Mollà-Herman, Nathalie Boddaert, et al.Human Molecular Genetics|November 28, 2018
Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signalingMarialetizia Motta, Miray Fidan, Emanuele Bellacchio, et al.Molecular and Cellular Pediatrics|November 5, 2017
Estimated prevalence of potentially damaging variants in the leptin geneAdriana Nunziata, Guntram Borck, Jan-Bernd Funcke, et al.Pageof 9