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Molecular Genetics and Metabolism|October 25, 2011
Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencingItai Berger, Ziva Ben-Neriah, Talia Dor-Wolman, et al.Journal of Medical Genetics|April 14, 2012
An SNX10 mutation causes malignant osteopetrosis of infancyMemet Aker, Alex Rouvinski, Saar Hashavia, et al.Epilepsia|December 21, 2012
West syndrome caused by ST3Gal-III deficiencySimon Edvardson, Anna-Maria Baumann, Martina Mühlenhoff, et al.Haematologica|November 27, 2010
IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approachPolina Stepensky, Michael Weintraub, Asaf Yanir, et al.Journal of Clinical Immunology|October 28, 2020
Bacillus Calmette-Guerin (BCG) Vaccine-associated Complications in Immunodeficient Patients Following Stem Cell TransplantationAdeeb NaserEddin, Yael Dinur-Schejter, Bella Shadur, et al.Journal of Inherited Metabolic Disease|November 15, 2015
Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening programJonathan Rips, Shlomo Almashanu, Hanna Mandel, et al.Journal of Medical Genetics|December 15, 2010
TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndromeRonen Spiegel, Morad Khayat, Stavit A Shalev, et al.American Journal of Human Genetics|March 13, 2012
Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2Ronen Spiegel, Ophry Pines, Asaf Ta-Shma, et al.Metabolic Brain Disease|January 15, 2019
Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and reviewYoav Zehavi, Hanna Mandel, Ayelet Eran, et al.Journal of Medical Genetics|December 10, 2013
KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunctionTalya Dor, Yuval Cinnamon, Laure Raymond, et al.Pageof 10