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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
File Details
- File Properties
-
Mime type: application/pdf
File size: 146.8 kB