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Journal of Medical Genetics|January 22, 2016
Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophySimon Edvardson, Jae Kyo Yi, Chaim Jalas, et al.Haematologica|November 27, 2010
IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approachPolina Stepensky, Michael Weintraub, Asaf Yanir, et al.Journal of Clinical Immunology|October 28, 2020
Bacillus Calmette-Guerin (BCG) Vaccine-associated Complications in Immunodeficient Patients Following Stem Cell TransplantationAdeeb NaserEddin, Yael Dinur-Schejter, Bella Shadur, et al.European Journal of Human Genetics : EJHG|March 9, 2017
tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathySimon Edvardson, Laurence Prunetti, Aiman Arraf, et al.European Journal of Human Genetics : EJHG|March 16, 2021
Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorderBassam Abu-Libdeh, Hagar Mor-Shaked, Amir A Atawna, et al.European Journal of Human Genetics : EJHG|April 13, 2019
Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathyRuth Sheffer, Michal Gur, Rebecca Brooks, et al.Journal of Medical Genetics|December 15, 2010
TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndromeRonen Spiegel, Morad Khayat, Stavit A Shalev, et al.Plos One|October 2, 2014
A novel familial mutation in the PCSK1 gene that alters the oxyanion hole residue of proprotein convertase 1/3 and impairs its enzymatic activityMichael Wilschanski, Montaser Abbasi, Elias Blanco, et al.American Journal of Human Genetics|March 13, 2012
Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2Ronen Spiegel, Ophry Pines, Asaf Ta-Shma, et al.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.Pageof 22