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Journal Article
Journal Article
Muscle & Nerve, ISSN 0148-639X, 01/2017, Volume 55, Issue 1, pp. 55 - 68
Journal Article
Human Mutation, ISSN 1059-7794, 02/2008, Volume 29, Issue 2, pp. 258 - 266
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2017, Volume 12, Issue 1, pp. e0170280 - e0170280
Journal Article
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 08/2013, Volume 34, Issue 8, pp. 1111 - 1118
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2017, Volume 12, Issue 4, pp. e0175343 - e0175343
This study aimed to study the diagnostic value of targeted next-generation sequencing (NGS) in limb-girdle muscular dystrophies (LGMDs), and investigate the... 
DISEASES | DYSFERLIN GENE | GENETIC DIAGNOSIS | MULTIDISCIPLINARY SCIENCES | FREQUENCY | GIRDLE MUSCULAR-DYSTROPHY | LIMB-GIRDLE | GUIDELINE | Muscular Dystrophies, Limb-Girdle - diagnosis | Humans | Asian Continental Ancestry Group - genetics | Child, Preschool | Genotype | Male | China - epidemiology | Muscles - pathology | Young Adult | Muscular Dystrophies, Limb-Girdle - genetics | Muscular Dystrophies, Limb-Girdle - epidemiology | Adolescent | Adult | Female | Heterozygote | High-Throughput Nucleotide Sequencing | Mutation | Muscular Dystrophies, Limb-Girdle - pathology | Child | Gene mutations | Analysis | Genetic aspects | Research | Nucleotide sequencing | Muscular dystrophy | Risk factors | DNA sequencing | Multiplexing | Brain | Jaw | Creatine kinase | Pathogenesis | Genomics | Disorders | Becker's muscular dystrophy | Creatine | Genetic screening | Proteins | Alignment | Coding | Neurodegeneration | Genetics | Diagnosis | Flow charts | Dystrophin | Assembly | Deoxyribonucleic acid--DNA | Abnormalities | Hereditary diseases | Amplification | Pathology | Neurology | Storage | Fibrosis | Methods | Populations | Muscular diseases | Exons | Genes | Burrows | Staining | Genomes | Chin | Tissues | Defects | Fibers | Clonal deletion | Degeneration | Muscular strength | Genetic disorders | Data processing | Calpain | C-Terminus | Desmin | Biopsy | N-Terminus | Dystrophy | Myopathy | Index Medicus | Deoxyribonucleic acid | DNA
Journal Article