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Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 10/2013, Volume 50, Issue 10, pp. 704 - 714
Journal Article
Journal Article
Journal Article
The Journal of Molecular Diagnostics, ISSN 1525-1578, 07/2018, Volume 20, Issue 4, pp. 533 - 549
Myopathies and muscular dystrophies (M-MDs) are genetically heterogeneous diseases, with >100 identified genes, including the giant and complex titin ( ) and... 
EXOME | VARIANTS | DNA | PERFORMANCE | GUIDELINES | CONSENSUS | MUTATIONS | PATHOLOGY | DELETIONS | GENOME | SEVERITY | Life Sciences
Journal Article
HUMAN MOLECULAR GENETICS, ISSN 0964-6906, 08/2012, Volume 21, Issue 15, pp. 3449 - 3460
Journal Article
Journal of the Peripheral Nervous System, ISSN 1085-9489, 03/2019, Volume 24, Issue 1, pp. 139 - 144
Neurofilaments are neuron‐specific intermediate filaments essential for the radial growth of axons during development and the maintenance of axonal diameter.... 
NEFL | neuropathy | Charcot‐Marie‐tooth | NGS | deafness | GENE-MUTATIONS | Charcot-Marie-tooth | NEUROSCIENCES | CLINICAL NEUROLOGY | N98S MUTATION | Deafness | Literature reviews | Phenotypes | Axonogenesis | Filaments | Intermediate filaments | Charcot-Marie-Tooth disease | Neurofilaments | Peripheral neuropathy | Genotypes | Hearing loss
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 2017, Volume 21, pp. e94 - e95
Journal Article
Psychological Trauma: Theory, Research, Practice, and Policy, ISSN 1942-9681, 09/2017, Volume 9, Issue 5, pp. 509 - 517
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 10/2019, Volume 29, pp. S136 - S136
Journal Article
Journal Article
Archives de pédiatrie, ISSN 0929-693X, 07/2018, Volume 25, Issue 5, pp. 322 - 326
Arthrogryposis is a descriptive term defining a sign. It describes a set of joint contractures, sometimes identifiable in utero, present from birth and... 
Amyoplasia congenita | Genetic | Neurological etiologies | Myopathies | Arthrogryposis | Protocol | Multidisciplinary | PERISYLVIAN POLYMICROGYRIA | CLASSIFICATION | MULTIPLE CONGENITAL CONTRACTURES | DIAGNOSTIC-APPROACH | GENETICS | PEDIATRICS | SPECTRUM | Medicine, Experimental | Medical research | Children | Health aspects | Analysis | Investigations | Life Sciences
Journal Article