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Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 11/2015, Volume 10, Issue 1, pp. 148 - 148
Journal Article
BMJ Open, ISSN 2044-6055, 06/2019, Volume 9, Issue 6, pp. e028209 - e028209
IntroductionPreconception carrier screening (PCS) identifies couples at risk of having children with recessive genetic conditions. New technologies have... 
pilot study protocol | reproductive medicine | genetic carrier screening | attitudes | knowledge | Medicine | Medical research | Genetic counseling | Disease | Laboratories | Genomics | Population | Genetics | Family medical history | Cost analysis | Public health
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 09/2014, Volume 85, Issue 9, pp. 1058 - 1060
  To identify the molecular cause of the disease, either in one of the eight known nemaline myopathy genes not yet sequenced in the proband, or in a novel gene... 
SURGERY | DISRUPTION | GENE | PSYCHIATRY | CLINICAL NEUROLOGY | MUTATION | Base Sequence - genetics | Genetic Predisposition to Disease - genetics | Myopathies, Nemaline - genetics | Pedigree | Humans | Adult | Female | Infant | Male | Cofilin 2 - genetics | Sequence Deletion - genetics | Proteins | Disease | Biopsy | Genes | Ventilation | Mutation | Deoxyribonucleic acid--DNA | Index Medicus
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 12/2018, Volume 27, Issue 24, pp. 4263 - 4272
Abstract Congenital myopathies are typically characterised by early onset hypotonia, weakness and hallmark features on biopsy. Despite the rapid pace of gene... 
ESSENTIAL LIGHT-CHAIN | FIBER-TYPE DISPROPORTION | OVEREXPRESSION | HYPERTROPHY | MYOSIN | GENETICS | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISEASE | GENETICS & HEREDITY | COMMON-CAUSE | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2018, Volume 102, Issue 3, pp. 505 - 514
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
Gastroenterology, ISSN 0016-5085, 2010, Volume 139, Issue 6, pp. 1995 - 2004.e15
Journal Article