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Molecular Genetics & Genomic Medicine|May 16, 2019
Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN)Allison Gregory, Mitesh Lotia, Suh Young Jeong, et al.Nature Genetics|June 20, 2006
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain ironNeil V Morgan, Shawn K Westaway, Jenny E V Morton, et al.The Journal of Investigative Dermatology|October 26, 2012
Copy number variation analysis in 98 individuals with PHACE syndromeDawn H Siegel, Joseph T C Shieh, Eun-Kyung Kwon, et al.American Journal of Human Genetics|November 27, 2012
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIATobias B Haack, Penelope Hogarth, Michael C Kruer, et al.American Journal of Human Genetics|November 8, 2016
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis DisorderGali Heimer, Juha M Kerätär, Lisa G Riley, et al.American Journal of Human Genetics|December 1, 2014
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathologyGabrielle R Wilson, Joe C H Sim, Catriona McLean, et al.American Journal of Human Genetics|November 9, 2022
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesisChristin S Adamo, Aude Beyens, Alvise Schiavinato, et al.Brain : a Journal of Neurology|May 21, 2013
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulationSusan J Hayflick, Michael C Kruer, Allison Gregory, et al.Nature Communications|May 28, 2016
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystoniaKarin Tuschl, Esther Meyer, Leonardo E Valdivia, et al.Genome Medicine|April 5, 2022
Clinical implementation of RNA sequencing for Mendelian disease diagnosticsVicente A Yépez, Mirjana Gusic, Robert Kopajtich, et al.Pageof 7