Showing results (21-30 of 34) with videos related to

Sort By:
Pageof 4
Molecular Genetics and Metabolism|June 25, 2011
X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicismYing Wang, Rachel Busin, Catherine Reeves, et al.
Clinical Genetics|September 5, 2020
Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiencyMaian Roifman, Kirsten M Niles, Lauren MacNeil, et al.
European Journal of Human Genetics : EJHG|February 18, 2018
Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testingGregory Costain, Rebekah Jobling, Susan Walker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliabilityRobin Z Hayeems, Stephanie Luca, Wendy J Ungar, et al.
Neurology|January 5, 2021
A Cross-Sectional Study of Nemaline MyopathyKimberly Amburgey, Meryl Acker, Samia Saeed, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 9, 2022
Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndromeRachel Youjin Oh, Ashish R Deshwar, Ashish Marwaha, et al.
BMJ Open|August 10, 2025
TRIAGE-GS: protocol for a randomised controlled trial of a genomics-first approach to rare disease diagnosis for patients awaiting assessment by a clinical geneticistKaitlin J Stanley, Caitlin Chisholm, Meredith K Gillespie, et al.
Human Molecular Genetics|November 9, 2023
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variantsJames P Allen, Kathryn B Garber, Riley Perszyk, et al.
BMJ Open|September 4, 2024
Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populationsGuylaine D'Amours, Marc Clausen, Stephanie Luca, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2023
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset strokeTheresa Brunet, Benedikt Zott, Victoria Lieftüchter, et al.
Pageof 4