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EMBO Molecular Medicine|February 27, 2019
OTULIN deficiency in ORAS causes cell type-specific LUBAC degradation, dysregulated TNF signalling and cell deathRune Busk Damgaard, Paul R Elliott, Kirby N Swatek, et al.Clinical Genetics|January 7, 2021
Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delayHagar Mor-Shaked, Somaya Salah, Shira Yanovsky-Dagan, et al.Human Molecular Genetics|May 20, 2016
Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathyMichele Giunta, Shimon Edvardson, Yaobo Xu, et al.American Journal of Human Genetics|May 7, 2005
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletionOrly Elpeleg, Chaya Miller, Eli Hershkovitz, et al.Neurogenetics|June 17, 2016
A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delaySimon Edvardson, Yael Elbaz-Alon, Chaim Jalas, et al.American Journal of Medical Genetics. Part A|February 7, 2020
Grandparental genotyping enhances exome variant interpretationHagit Daum, Hagar Mor-Shaked, Asaf Ta-Shma, et al.Annals of Neurology|August 30, 2016
Therapy with eculizumab for patients with CD59 p.Cys89Tyr mutationDror Mevorach, Inna Reiner, Amir Grau, et al.Pediatric Research|November 25, 2003
Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorderJeannette Gootjes, Orly Elpeleg, François Eyskens, et al.Neurogenetics|January 7, 2017
Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancyAviva Fattal-Valevski, Hila Eliyahu, NItai D Fraenkel, et al.American Journal of Human Genetics|December 29, 2009
Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutationSimon Edvardson, Avraham Shaag, Shamir Zenvirt, et al.Pageof 22