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Plos Genetics|June 17, 2020
yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia developmentBernardo Blanco-Sánchez, Aurélie Clément, Sara J Stednitz, et al.Plos Genetics|October 25, 2011
Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteasesTyler Mark Pierson, David Adams, Florian Bonn, et al.Science (New York, N.Y.)|October 2, 2020
Autosomal dominant VCP hypomorph mutation impairs disaggregation of PHF-tauNabil F Darwich, Jessica M Phan, Boram Kim, et al.Human Mutation|October 19, 2017
A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiencyMay Christine V Malicdan, Thierry Vilboux, Bruria Ben-Zeev, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 9, 2016
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylationChristina Lam, Carlos Ferreira, Donna Krasnewich, et al.Plos Genetics|October 26, 2020
Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia developmentBernardo Blanco-Sánchez, Aurélie Clément, Sarah J Stednitz, et al.Orphanet Journal of Rare Diseases|May 16, 2016
Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disabilityValerie Maduro, Barbara N Pusey, Praveen F Cherukuri, et al.Biorxiv : the Preprint Server for Biology|February 14, 2024
Cellular Modeling of CLN6 with IPSC-derived Neurons and GliaMaria Gabriela Otero, Jaemin Kim, Yogesh Kumar Kushwaha, et al.Journal of Medical Genetics|April 21, 2016
Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defectsThierry Vilboux, May Christine V Malicdan, Yun Min Chang, et al.American Journal of Medical Genetics. Part A|December 4, 2024
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network StudyQueenie K-G Tan, Allyn McConkie-Rosell, Rachel Mahoney, et al.Pageof 16