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Diagnostic NGS for Severe Neuromuscular Disorders.
Dhamija, Radhika; Chambers, Chelsea.
Affiliation
  • Dhamija R; Division of Pediatric Neurology, Department of Neurology, University of Virginia, Charlottesville, VA.
  • Chambers C; Division of Pediatric Neurology, Department of Neurology, University of Virginia, Charlottesville, VA.
Pediatr Neurol Briefs ; 29(11): 82, 2015 Nov.
Article in En | MEDLINE | ID: mdl-26933539
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.
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Full text: 1 Database: MEDLINE Type of study: Diagnostic_studies Language: En Journal: Pediatr Neurol Briefs Year: 2015 Type: Article Affiliation country: Vatican City
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Full text: 1 Database: MEDLINE Type of study: Diagnostic_studies Language: En Journal: Pediatr Neurol Briefs Year: 2015 Type: Article Affiliation country: Vatican City