Showing results (161-170 of 214) with videos related to

Sort By:
Pageof 22
Oncotarget|December 20, 2015
Cytokine secretion and NK cell activity in human ADAM17 deficiencyPinchas Tsukerman, Eli M Eisenstein, Maor Chavkin, et al.
American Journal of Human Genetics|June 11, 2019
Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile EncephalopathyBoris Fichtman, Tamar Harel, Nitzan Biran, et al.
Cardiovascular Toxicology|May 1, 2008
Cardiac-targeted transgenic mutant mitochondrial enzymes: mtDNA defects, antiretroviral toxicity and cardiomyopathyJames J Kohler, Seyed H Hosseini, Elgin Green, et al.
American Journal of Human Genetics|August 5, 2017
Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in ChildhoodSimon Edvardson, Claudia M Nicolae, Pankaj B Agrawal, et al.
International Journal of Molecular Sciences|February 26, 2022
A Zebrafish Model for a Rare Genetic Disease Reveals a Conserved Role for FBXL3 in the Circadian Clock SystemShir Confino, Talya Dor, Adi Tovin, et al.
Journal of Medical Genetics|November 13, 2015
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutationRonen Spiegel, Ann Saada, Padraig J Flannery, et al.
European Journal of Human Genetics : EJHG|August 10, 2018
A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiencyLaura van Diepen, Falk F R Buettner, Dirk Hoffmann, et al.
American Journal of Human Genetics|October 13, 2006
Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTsJan A M Smeitink, Orly Elpeleg, Hana Antonicka, et al.
Brain : a Journal of Neurology|January 19, 2024
Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapyLucia Abela, Lorita Gianfrancesco, Erica Tagliatti, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 7, 2015
TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disabilityGali Heimer, Danit Oz-Levi, Eran Eyal, et al.
Pageof 22