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Brain : a Journal of Neurology|February 26, 2016
In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2Susan E Tomlinson, S Veronica Tan, David Burke, et al.
BMC Medical Genomics|January 6, 2026
Defining an approach to empower clinical geneticists to do genomic reanalysisMichael M Segal, Meriel McEntagart, Alexander T Deng, et al.
Cold Spring Harbor Molecular Case Studies|August 8, 2019
VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulationGholson J Lyon, Elaine Marchi, Joseph Ekstein, et al.
Neurology|December 24, 2013
C9orf72 expansions are the most common genetic cause of Huntington disease phenocopiesDavina J Hensman Moss, Mark Poulter, Jon Beck, et al.
Clinical Genetics|May 17, 2020
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndromeViviana Cordeddu, Erica L Macke, Francesca Clementina Radio, et al.
Neurogenetics|June 2, 2011
Call for participation in the neurogenetics consortium within the Human Variome ProjectAndrea Haworth, Lars Bertram, Paola Carrera, et al.
The New England Journal of Medicine|November 10, 2021
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report, Damian Smedley, Katherine R Smith, et al.
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