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المؤلفون: Roan Louw, Engela Honey, Marli Dercksen, Maryke Schoonen, Francois H. van der Westhuizen, Lindi-Maryn Jonck, Izelle Smuts
المصدر: Journal of the neurological sciences. 384
مصطلحات موضوعية: 0301 basic medicine, Iron-Sulfur Proteins, Male, Electron-Transferring Flavoproteins, Population, Disease, Neonatal onset, Compound heterozygosity, medicine.disease_cause, White People, 03 medical and health sciences, Exon, South Africa, Young Adult, 0302 clinical medicine, Fatal Outcome, Medicine, Humans, Family, education, Multiple Acyl-CoA Dehydrogenase Deficiency, Child, Multiple Acyl Coenzyme A Dehydrogenase Deficiency, Retrospective Studies, Genetics, Mutation, education.field_of_study, Oxidoreductases Acting on CH-NH Group Donors, business.industry, Metabolic disorder, Infant, Newborn, medicine.disease, 030104 developmental biology, Phenotype, Neurology, Female, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f92221701e20b06b6c3d16f70aff72ccTest
https://pubmed.ncbi.nlm.nih.gov/29249369Test -
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المؤلفون: D Thompson, Denis Viljoen, Peter Beighton, Manogari Chetty, Alvera Vorster, Yasmeen Ganie, Engela Honey, Karen Fieggen, Piet Maré, Rajkumar Ramesar, B D Henderson
المصدر: SAMJ: South African Medical Journal, Volume: 107, Issue: 5, Pages: 457-462, Published: MAY 2017
South African Medical Journal, Vol 107, Iss 5, Pp 457-462 (2017)
South African Medical Journal; Vol 107, No 5 (2017); 457-462مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Population, lcsh:Medicine, 030105 genetics & heredity, Compound heterozygosity, Frameshift mutation, 03 medical and health sciences, Bruck syndrome, Genetic, medicine, education, Genetics, education.field_of_study, lcsh:R5-920, business.industry, Haplotype, lcsh:R, General Medicine, Skeletal, medicine.disease, Surgery, FKBP10, Osteogenesis imperfecta, Cohort, Mutation (genetic algorithm), Africa, business, lcsh:Medicine (General), Fractures
وصف الملف: text/html; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98186ff2db83411abb7cd653d3877cebTest
http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S0256-95742017000500026&lng=en&tlng=enTest -
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المؤلفون: Annelize van der Merwe, G. Wayne Towers, Chris F. Retief, Antonel Olckers, Engela Honey, Clara-Maria Schutte
المصدر: Neuromuscular disorders : NMD. 22(8)
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Heterozygote, Population, Compound heterozygosity, Deoxyribonuclease EcoRI, South Africa, Atrophy, medicine, Facioscapulohumeral muscular dystrophy, Humans, Muscular dystrophy, education, Deoxyribonucleases, Type II Site-Specific, Genetics (clinical), Genetics, education.field_of_study, business.industry, Facial weakness, Autosomal dominant trait, Middle Aged, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, Pedigree, Chromosome 4, Neurology, Haplotypes, Pediatrics, Perinatology and Child Health, Neurology (clinical), medicine.symptom, Chromosomes, Human, Pair 4, business, Gene Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55e48224f4fce57fe9c9161234dac92fTest
https://pubmed.ncbi.nlm.nih.gov/22652079Test -
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المؤلفون: Engela Honey, H C Schuman, Lodewyk J. Mienie, Gert Matthijs, A C Crutchley, Jaak Jaeken, B C Vorster, M M Lippert, Marli Dercksen
المصدر: JIMD Reports ISBN: 9783642334320
مصطلحات موضوعية: Genetics, Pediatrics, medicine.medical_specialty, business.industry, Gene mutation, Compound heterozygosity, Phenotype, Article, Genotype phenotype, Frameshift mutation, Mutation (genetic algorithm), Genotype, Medicine, Missense mutation, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3518dcf7f929293f028022e2c6fdaffdTest
https://pubmed.ncbi.nlm.nih.gov/23430515Test