Diagnostic Criteria for Neuromuscular Disorders
نویسندگان
چکیده
منابع مشابه
Diagnostic NGS for Severe Neuromuscular Disorders.
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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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1994
ISSN: 1468-6244
DOI: 10.1136/jmg.31.12.981-a