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Muscle & Nerve|September 27, 2016
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathyPaulomi Mehta, Melanie Küspert, Tejus Bale, et al.JAMA Neurology|September 30, 2014
Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findingsPankaj B Agrawal, Mugdha Joshi, Nicholas S Marinakis, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 13, 2017
A curated gene list for reporting results of newborn genomic sequencingOzge Ceyhan-Birsoy, Kalotina Machini, Matthew S Lebo, et al.Journal of Perinatology : Official Journal of the California Perinatal Association|March 19, 2024
Genomic testing and molecular diagnosis among infants with congenital heart disease in the neonatal intensive care unitErica E D'Souza, Tina O Findley, Rachel Hu, et al.Neurogenetics|September 24, 2015
Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentationsCatherine A Brownstein, Alan H Beggs, Lance Rodan, et al.The Journal of Clinical Endocrinology and Metabolism|March 18, 2015
Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndromeVidhu V Thaker, Kristyn M Esteves, Meghan C Towne, et al.American Journal of Medical Genetics. Part A|October 10, 2020
Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosisAlissa M D'Gama, Eleina England, Jill A Madden, et al.Human Molecular Genetics|September 16, 2017
Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early deathSiqi Cao, Laura L Smith, Sergio R Padilla-Lopez, et al.Clinical Genetics|November 6, 2020
PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestationsCamille Tremblay-Laganière, Rauan Kaiyrzhanov, Reza Maroofian, et al.Molecular Genetics and Metabolism Reports|July 11, 2018
Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiencyXin Fan, Bobo Xie, Jun Zou, et al.Pageof 83