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Functional analysis of A 5' untranslated variant in rhodopsin : implications for the retinitis pigmentosa phenotype
Published 2014“…Division of Human Genetics…”
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Development of a SCA7 patient-derived lymphoblast cell model for testing RNAi knock-down of the disease-causing gene
Published 2014“…Division of Human Genetics…”
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Elucidation of bipolar disorder : a convergent approach using genetics and imaging
Published 2014“…Division of Human Genetics…”
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Huntington’s chorea in South Africa
Published 2015“…Division of Human Genetics…”
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An investigation into factors which have an impact on access to and utilisation of the genetic and endoscopic surveillance clinic offered to high-risk members of known Lynch famili...
Published 2015“…Division of Human Genetics…”
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Identification of a suitable SNP for allele-specific silencing of the disease-causing gene in SCA1 patients in South Africa
Published 2015“…Division of Human Genetics…”
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Gaucer Disease in the Ashkenazi-Jewish Community of South Africa
Published 2015“…Division of Human Genetics…”
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The pharmacologenetics of lopinavir in a cohort of black African HIV/AIDS patients
Published 2015“…Division of Human Genetics…”
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Sickle cell anaemia in Cameroon : co-inheritance of α-thalassemia, HBB gene haplotypes, clinical & haematological characterisations
Published 2015“…Division of Human Genetics…”
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Understanding doctors' knowledge and attitudes concerning genetics and genetic services in South Africa
Published 2016“…Division of Human Genetics…”
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Genetic analysis of bipolar disorder and alcohol use disorder
Published 2016“…Division of Human Genetics…”
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Knowledge and experiences of parents with children affected by Sickle Cell Disease in Cape Town
Published 2016“…Division of Human Genetics…”
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Women's experiences of receiving a child's fetal alcohol spectrum disorder diagnosis: a Western Cape study
Published 2016“…Division of Human Genetics…”
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A molecular investigation of Huntington disease; origins of the mutation and current prevalence in South Africa
Published 2016“…Division of Human Genetics…”
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Genetics of age-related macular degeneration and Stargardt disease in South African populations
Published 2016“…Division of Human Genetics…”
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Investigating the genetic basis of cisplatin-induced ototoxicity in adult South African patients
Published 2016“…Division of Human Genetics…”
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Dental implications of inherited connective tissue disorders in South Africa
Published 2016“…Division of Human Genetics…”
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Study of genetic modifiers of fetal hemoglobin and mechanisms of hydroxyurea-induced γ-globin expression in sickle cell disease
Published 2017“…Division of Human Genetics…”
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Skin cells as a tool in genetic diagnosis of Duchenne muscular dystrophy
Published 2017“…Division of Human Genetics…”
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Parents' perspectives and experiences of having a child with hereditary hearing loss
Published 2017“…Division of Human Genetics…”
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