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American Journal of Human Genetics|July 9, 2016
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive MicrocephalyMartin W Breuss, Tipu Sultan, Kiely N James, et al.Pediatric Neurology|December 15, 2017
Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 PatientsFuad Al Mutairi, Majid Alfadhel, Marwan Nashabat, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 11, 2017
Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new casesMajid Alfadhel, Marwan Nashabat, Muhammad Talal Alrifai, et al.Journal of Medical Genetics|August 11, 2017
Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disabilityFrancjan J van Spronsen, Nastassja Himmelreich, Véronique Rüfenacht, et al.Journal of Inherited Metabolic Disease|September 20, 2012
Clinical and biochemical features associated with BCS1L mutationMohammed Al-Owain, Dilek Colak, Albandary Albakheet, et al.American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|December 20, 2019
Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi populationKhushnooda Ramzan, Mohammed Al-Owain, Nouf S Al-Numair, et al.Nature Genetics|October 25, 2011
Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosusSulaiman M Al-Mayouf, Asma Sunker, Reem Abdwani, et al.JIMD Reports|November 30, 2015
Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic AcidemiaFaiqa Imtiaz, Bashayer M Al-Mubarak, Abeer Al-Mostafa, et al.Clinical Genetics|January 28, 2021
Hematological findings associated with tubulin-folding cofactors D-related encephalopathy: Expanding the phenotypeAlbandary Al-Bakheet, Mohamed Tohary, Sameena Khan, 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.Pageof 9