Showing results (61-70 of 119) with videos related to
Sort By:
Pageof 12
Neurology|August 3, 2014
TUBB4A de novo mutations cause isolated hypomyelinationAmy Pizzino, Tyler Mark Pierson, Yiran Guo, et al.Pediatric Neurology|June 10, 2021
Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating LeukodystrophyGuy Helman, Ayelet Zerem, Akshata Almad, et al.BMC Nephrology|September 17, 2015
A protocol for the identification and validation of novel genetic causes of kidney diseaseAndrew Mallett, Chirag Patel, Barbara Maier, et al.Human Molecular Genetics|May 3, 2023
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial diseaseSumudu S C Amarasekera, Daniella H Hock, Nicole J Lake, et al.Nature Genetics|November 25, 2014
Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsyCas Simons, Lachlan D Rash, Joanna Crawford, et al.Nature Genetics|May 29, 2025
Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genesAdam Jackson, Nishi Thaker, Alexander Blakes, et al.Pediatric Neurology|November 16, 2016
RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus InfectionNicole Ulrick, Amy Goldstein, Cas Simons, et al.American Journal of Human Genetics|March 27, 2018
Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating LeukodystrophyMarisa I Mendes, Mariana Gutierrez Salazar, Kether Guerrero, et al.American Journal of Human Genetics|March 31, 2015
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defectCas Simons, Laurie B Griffin, Guy Helman, et al.JAMA Network Open|January 4, 2022
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic WorkflowDavid E Godler, Ling Ling, Dinusha Gamage, et al.Pageof 12