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Molecular Genetics and Metabolism|January 20, 2007
REMOVED: Short-chain acyl-CoA dehydrogenase gene mutation (319 C>T) presents with clinical heterogeneity and is candidate founder mutation in Ashkenazi Jewish populationIngrid Tein, Orly Elpeleg, Bruria Ben-Zeev, et al.Blood Advances|March 20, 2019
Stem cell transplantation for osteopetrosis in patients beyond the age of 5 yearsPolina Stepensky, Sigal Grisariu, Batia Avni, et al.Human Mutation|April 18, 2012
Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutasePeter Huppke, Cornelia Brendel, Georg Christoph Korenke, et al.Journal of Clinical Immunology|April 21, 2015
Enteroviral Infection in a Patient with BLNK Adaptor Protein DeficiencyAdeeb NaserEddin, Oded Shamriz, Baerbel Keller, et al.Clinical Immunology (Orlando, Fla.)|May 2, 2015
Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutationShoshana Revel-Vilk, Ute Fischer, Bärbel Keller, et al.Journal of Medical Genetics|November 2, 2016
Congenital valvular defects associated with deleterious mutations in the <i>PLD1</i> geneAsaf Ta-Shma, Kai Zhang, Ekaterina Salimova, et al.Plos One|August 31, 2013
CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic ciliaAmjad Horani, Steven L Brody, Thomas W Ferkol, et al.Journal of Medical Genetics|November 8, 2015
Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi geneSimon Edvardson, Shingo Kose, Chaim Jalas, et al.Molecular Genetics and Metabolism|December 7, 2007
Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish originIngrid Tein, Orly Elpeleg, Bruria Ben-Zeev, et al.Blood|November 15, 2012
CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathyYoram Nevo, Bruria Ben-Zeev, Adi Tabib, et al.Pageof 22