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Pediatric Neurology Briefs: Volume 29, Issue 11

Diagnostic NGS for Severe Neuromuscular Disorders Open Access (recommended)

Descriptions

Resource type(s)
Article
Keyword
Neuromuscular Disorders
Novel Genes
Next-Generation-Sequencing
Rights
Attribution 4.0 International

Creator
Dhamija, Radhika
Chambers, Chelsea
Abstract
Investigators from the University of Western Australia report the diagnostic yield of performing next generation sequencing (NGS; whole exome and targeted capture of 277 neuromuscular genes) in a heterogenous cohort of patients with neuromuscular disorders (NMD) presenting at or before birth.
Publisher
DigitalHub. Galter Health Sciences Library
Pediatric Neurology Briefs Publishers
Date Created
2015
Original Identifier
PNB-29-82
Language
English
Subject: MESH
Nervous System Diseases
Pediatrics
Neurosurgery
Child Development
Child
Neurology
Brain Diseases
Infant
DOI
10.15844/pedneurbriefs-29-11-1

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Mime type: application/pdf
File size: 146.8 kB