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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: Engela Honey, Monique G. Zaahl, Karen Fieggen, Samuel W. Moore
المصدر: Journal of pediatric surgery. 51(2)
مصطلحات موضوعية: 0301 basic medicine, Genetic Markers, Male, Mowat–Wilson syndrome, Biology, medicine.disease_cause, Frameshift mutation, 03 medical and health sciences, Exon, 0302 clinical medicine, Intellectual Disability, medicine, Humans, Hirschsprung Disease, Child, Gene, Zinc Finger E-box Binding Homeobox 2, Genetics, Homeodomain Proteins, Mutation, Infant, Newborn, Facies, Infant, Promoter, General Medicine, medicine.disease, Repressor Proteins, 030104 developmental biology, Phenotype, Child, Preschool, Pediatrics, Perinatology and Child Health, Microcephaly, Homeobox, Surgery, Female, Haploinsufficiency, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::021c0433e63e6a0e88fecb23b0d44e6fTest
https://pubmed.ncbi.nlm.nih.gov/26852091Test -
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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