Showing results (61-70 of 138) with videos related to
Sort By:
Pageof 14
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 3, 2015
Devastating recurrent brain ischemic infarctions and retinal disease in pediatric patients with CD59 deficiencyBruria Ben-Zeev, Adi Tabib, Andreea Nissenkorn, et al.Development (Cambridge, England)|July 15, 2010
A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3Wuhong Pei, Lisa E Kratz, Isa Bernardini, et al.Human Mutation|October 17, 2006
A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristicsNira Schreyer-Shafir, Marjan Huizing, Yair Anikster, et al.Stem Cell Research|April 9, 2022
Generation of two human iPSC lines, HMGUi003-A and MRIi028-A, carrying pathogenic biallelic variants in the PPCS geneArcangela Iuso, Fangfang Zhang, Ejona Rusha, et al.Cancer Research|April 19, 2006
Related to testes-specific, vespid, and pathogenesis protein-1 (RTVP-1) is overexpressed in gliomas and regulates the growth, survival, and invasion of glioma cellsTovit Rosenzweig, Amotz Ziv-Av, Cunli Xiang, et al.Journal of Inherited Metabolic Disease|July 23, 2024
The natural history of dihydrolipoamide dehydrogenase deficiency in IsraelBen Pode-Shakked, Yuval E Landau, Nava Shaul Lotan, et al.The New England Journal of Medicine|December 27, 2002
Natural history of alkaptonuriaChanika Phornphutkul, Wendy J Introne, Monique B Perry, et al.BMC Medical Genetics|March 30, 2019
Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literatureBen Pode-Shakked, Asaf Vivante, Ortal Barel, et al.Human Genetics|September 8, 2022
Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathyDina Marek-Yagel, Emily Stenke, Ben Pode-Shakked, et al.American Journal of Human Genetics|March 21, 2017
Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal SyndromeAsaf Ta-Shma, Tahir N Khan, Asaf Vivante, et al.Pageof 14