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Scientific Reports|November 7, 2022
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern familiesGhalia Al-Kasbi, Fathiya Al-Murshedi, Adila Al-Kindi, et al.Journal of Community Genetics|February 18, 2022
Uptake of prenatal genetic diagnosis and termination of pregnancy by Omani Muslim families at risk of genetic disorders: experience over a 9-year periodZandré Bruwer, Salwa Al Ubaidani, Khalsa Al Kharusi, et al.American Journal of Human Genetics|November 26, 2020
Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in HumansFatema Alzahrani, Hiroyuki Kuwahara, Yongkang Long, et al.Drug Safety|August 28, 2020
Safety of the Geneva Cocktail, a Cytochrome P450 and P-Glycoprotein Phenotyping Cocktail, in Healthy Volunteers from Three Different Geographic OriginsVictoria Rollason, Médéric Mouterde, Youssef Daali, et al.Neurodegenerative Disease Management|June 6, 2019
Current management of Duchenne muscular dystrophy in the Middle East: expert reportMohammed Al Jumah, Mohammad Al Muhaizea, Ahmed Al Rumayyan, et al.American Journal of Human Genetics|April 7, 2022
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiationMarion Coolen, Nami Altin, Karthyayani Rajamani, et al.The Journal of Clinical Investigation|April 21, 2026
Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal DysfunctionNiccolò E Mencacci, Georgia Minakaki, Reza Maroofian, et al.Brain : a Journal of Neurology|February 27, 2016
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagySusan Byrne, Lara Jansen, Jean-Marie U-King-Im, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 16, 2023
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorderAndrea Accogli, Sheng-Jia Lin, Mariasavina Severino, et al.Brain : a Journal of Neurology|January 23, 2019
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insightsDevon L Johnstone, Hilal H Al-Shekaili, Maja Tarailo-Graovac, et al.Pageof 7