Showing results (11-20 of 34) with videos related to
Sort By:
Pageof 4
American Journal of Human Genetics|March 30, 2020
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and SeizuresTiong Yang Tan, Jiří Sedmík, Mark P Fitzgerald, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2018
De novo missense variants in RAC3 cause a novel neurodevelopmental syndromeGregory Costain, Bert Callewaert, Heinz Gabriel, et al.Annals of Clinical and Translational Neurology|May 12, 2017
Diagnostic and cost utility of whole exome sequencing in peripheral neuropathyMaie Walsh, Katrina M Bell, Belinda Chong, et al.Human Mutation|February 12, 2019
Cerebral hypomyelination associated with biallelic variants of FIG4Guy M Lenk, Ian R Berry, Chloe A Stutterd, et al.BMJ Open|April 3, 2024
Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocolSebastian Lunke, Sophie E Bouffler, Lilian Downie, et al.JAMA Pediatrics|August 1, 2017
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic ConditionsTiong Yang Tan, Oliver James Dillon, Zornitza Stark, et al.American Journal of Human Genetics|March 20, 2021
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndromeSusan M White, Elizabeth Bhoj, Christoffer Nellåker, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 4, 2016
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disordersZornitza Stark, Tiong Y Tan, Belinda Chong, et al.Journal of Medical Genetics|November 6, 2021
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases ProgramThomas Cloney, Lyndon Gallacher, Lynn S Pais, et al.Brain : a Journal of Neurology|August 15, 2018
SYT1-associated neurodevelopmental disorder: a case seriesKate Baker, Sarah L Gordon, Holly Melland, et al.Pageof 4