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Molecular Genetics and Metabolism|August 15, 2002
Hypocarnitinemia in lysinuric protein intoleranceStanley H Korman, Annick Raas-Rothschild, Orly Elpeleg, et al.American Journal of Medical Genetics. Part A|October 18, 2016
TBCK-related intellectual disability syndrome: Case study of two patientsHanna Mandel, Morad Khayat, Elana Chervinsky, et al.Annals of Neurology|November 26, 2002
N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathyOrly Elpeleg, Avraham Shaag, Efrat Ben-Shalom, et al.Analytical Biochemistry|November 3, 2004
Evaluation of enzymatic assays and compounds affecting ATP production in mitochondrial respiratory chain complex I deficiencyAnn Saada, Maskit Bar-Meir, Corinne Belaiche, et al.American Journal of Medical Genetics. Part A|March 26, 2018
A homozygous TTN gene variant associated with lethal congenital contracture syndromeElena Chervinsky, Morad Khayat, Sofia Soltsman, et al.JIMD Reports|August 20, 2016
Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase DeficiencyRonen Spiegel, Devorah Soiferman, Avraham Shaag, et al.Annals of Neurology|February 29, 2008
Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutationItai Berger, Eli Hershkovitz, Avraham Shaag, et al.Biochemical and Biophysical Research Communications|October 11, 2003
Mitochondrial deoxyribonucleoside triphosphate pools in thymidine kinase 2 deficiencyAnn Saada, Efrat Ben-Shalom, Rivka Zyslin, et al.Journal of Medical Genetics|July 24, 2014
TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephalyDavid Gillis, Aiswarya Krishnamohan, Barak Yaacov, et al.American Journal of Medical Genetics. Part A|July 8, 2017
Homozygous null variant in CRADD, encoding an adaptor protein that mediates apoptosis, is associated with lissencephalyTamar Harel, Nuphar Hacohen, Avraham Shaag, et al.Pageof 22