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Journal Article
Nature Reviews Neurology, ISSN 1759-4758, 01/2016, Volume 12, Issue 1, pp. 6 - 8
Whole-exome sequencing is a new tool for neuromuscular clinicians, and recent findings show that it improves the diagnosis of limb-girdle muscular dystrophy.... 
Exome - genetics | Muscular Dystrophies, Limb-Girdle - diagnosis | Humans | Family Health | Female | Male | Mutation - genetics | Sequence Analysis, DNA - methods | Index Medicus
Journal Article
JACC (Journal of the American College of Cardiology), ISSN 0735-1097, 2017, Volume 69, Issue 11, pp. 2352 - 2352
  Case: A 28-year-old man with autistic disorder presented to the hospital with dyspnea, intractable nausea, lower extremity edema, and muscle weakness which... 
Cardiovascular | Internal Medicine | CARDIAC & CARDIOVASCULAR SYSTEMS | Pulmonary arteries | Cardiomyopathy | Muscular dystrophy
Journal Article
Annals of Neurology, ISSN 0364-5134, 01/2012, Volume 71, Issue 1, pp. 141 - 145
Journal Article
Muscle & Nerve, ISSN 0148-639X, 01/2017, Volume 55, Issue 1, pp. 55 - 68
Journal Article
JAMA Neurology, ISSN 2168-6149, 12/2015, Volume 72, Issue 12, p. 1424
  To our knowledge, the efficacy of transferring next-generation sequencing from a research setting to neuromuscular clinics has never been evaluated. To... 
Genotype & phenotype | Neurology | Congenital diseases | Genetics | Medical diagnosis | Muscular dystrophy | Clinical outcomes
Journal Article
Human Mutation, ISSN 1059-7794, 02/2008, Volume 29, Issue 2, pp. 258 - 266
Journal Article