Showing results (51-60 of 72) with videos related to
Sort By:
Pageof 8
American Journal of Human Genetics|October 19, 2010
Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complexRami Kaufmann, Rachel Straussberg, Hanna Mandel, et al.Journal of Medical Genetics|October 4, 2016
Mutations in the phosphatidylinositol glycan C (<i>PIGC</i>) gene are associated with epilepsy and intellectual disabilitySimon Edvardson, Yoshiko Murakami, Thi Tuyet Mai Nguyen, et al.Annals of Neurology|December 9, 2015
Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathyGuy Helman, Ljubica Caldovic, Matthew T Whitehead, et al.Frontiers in Immunology|January 23, 2026
NDUFS4, a mitochondrial complex I subunit, is essential for T-cell metabolic fitness and immune functionOded Shamriz, Zahala Bar-On, Omri Yosef, et al.Journal of Medical Genetics|November 8, 2015
Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi geneSimon Edvardson, Shingo Kose, Chaim Jalas, et al.Journal of Medical Genetics|February 9, 2013
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporterSimon Edvardson, Vito Porcelli, Chaim Jalas, et al.American Journal of Human Genetics|August 5, 2017
Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi DysfunctionMiroslav P Milev, Megan E Grout, Djenann Saint-Dic, et al.Neuromuscular Disorders : NMD|December 28, 2016
Congenital myasthenic syndrome in Israel: Genetic and clinical characterizationSharon Aharoni, Menachem Sadeh, Yehuda Shapira, 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.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.Pageof 8