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Neuromuscular Disorders, ISSN 0960-8966, 2014, Volume 24, Issue 4, pp. 289 - 311
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2013, Volume 92, Issue 3, pp. 354 - 365
Journal Article
Neurology, ISSN 0028-3878, 07/2016, Volume 87, Issue 1, pp. 71 - 76
OBJECTIVE:To apply next-generation sequencing (NGS) for the investigation of the genetic basis of undiagnosed muscular dystrophies and myopathies in a very... 
DIAGNOSIS | PHENOTYPES | DUCHENNE | NEUROMUSCULAR DISORDERS | MENDELIAN DISEASE | CLINICAL NEUROLOGY | Genetic Variation | Diagnosis, Differential | Humans | Female | Italy | Male | Muscular Dystrophies - diagnosis | Sequence Analysis | Muscular Dystrophies - genetics | Cohort Studies | Index Medicus | Abridged Index Medicus | 185
Journal Article
Brain, ISSN 0006-8950, 10/2007, Volume 130, Issue 10, pp. 2725 - 2735
Journal Article
Journal Article
2001, Methods in molecular medicine, ISBN 0896036952, Volume 43, xii, 457
With the molecular mechanisms underlying the various forms of muscular dystrophy now rapidly clarifying, precise diagnosis has become a reality, and even a... 
Muscular Dystrophies | genetics | Genetics, Biochemical | diagnosis | Genetic Screening | Molecular aspects | Muscular dystrophy | Neuromuscular diseases | Laboratory manuals | Neurology | Medicine & Public Health
Book
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 3906 - 16
Journal Article
Annals of Neurology, ISSN 0364-5134, 2012, Volume 72, Issue 4, pp. 550 - 558
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 09/2009, Volume 119, Issue 9, pp. 2623 - 2633
Journal Article