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American Journal of Human Genetics|September 12, 2007
Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasiaSimon Edvardson, Avraham Shaag, Olga Kolesnikova, et al.
Frontiers in Genetics|December 3, 2014
A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesionsLaura Melchionda, Nadirah S Damseh, Bassam Y Abu Libdeh, et al.
The Journal of Clinical Investigation|September 2, 2025
A pathogenic variant of AMOT leads to isolated X-linked congenital hydrocephalus due to N-terminal truncationNurcan Hastar, Hagit Daum, Nikoletta Kardos-Török, et al.
American Journal of Human Genetics|January 9, 2008
C6ORF66 is an assembly factor of mitochondrial complex IAnn Saada, Simon Edvardson, Matan Rapoport, et al.
Molecular Genetics and Metabolism|November 1, 2002
Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acidsEfrat Ben-Shalom, Keiko Kobayashi, Avraham Shaag, et al.
Hepatology (Baltimore, Md.)|September 13, 2017
Organic solute transporter-β (SLC51B) deficiency in two brothers with congenital diarrhea and features of cholestasisMutaz Sultan, Anuradha Rao, Orly Elpeleg, et al.
European Journal of Human Genetics : EJHG|December 4, 2014
A human laterality disorder associated with a homozygous WDR16 deletionAsaf Ta-Shma, Zeev Perles, Barak Yaacov, et al.
Clinical Immunology (Orlando, Fla.)|January 16, 2016
Deep intronic mis-splicing mutation in JAK3 gene underlies T-B+NK- severe combined immunodeficiency phenotypePolina Stepensky, Baerbel Keller, Oded Shamriz, et al.
European Journal of Human Genetics : EJHG|April 13, 2019
Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delayTamar Harel, Ephrat Levy-Lahad, Muhannad Daana, et al.
European Journal of Pediatrics|May 20, 2018
Respiratory manifestations in LPS-responsive beige-like anchor (LRBA) protein-deficient patientsOded Shamriz, Bella Shadur, Adeeb NaserEddin, et al.
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