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Functional analysis of A 5' untranslated variant in rhodopsin : implications for the retinitis pigmentosa phenotype
Published 2014Subjects: “…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 2014Subjects: “…Human Genetics…”
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Huntington’s chorea in South Africa
Published 2015Subjects: “…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 2015Subjects: “…Human Genetics…”
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Spinocerebellar ataxia type 7 in southern africa: an epidemiological, molecular and cellular study
Published 2015Subjects: “…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 2015Subjects: “…Human Genetics…”
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Gaucer Disease in the Ashkenazi-Jewish Community of South Africa
Published 2015Subjects: “…Human Genetics…”
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The pharmacologenetics of lopinavir in a cohort of black African HIV/AIDS patients
Published 2015Subjects: “…Human Genetics…”
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Sickle cell anaemia in Cameroon : co-inheritance of α-thalassemia, HBB gene haplotypes, clinical & haematological characterisations
Published 2015Subjects: “…Human Genetics…”
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Genetic analysis of bipolar disorder and alcohol use disorder
Published 2016Subjects: “…Human Genetics…”
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A molecular investigation of Huntington disease; origins of the mutation and current prevalence in South Africa
Published 2016Subjects: “…Human Genetics…”
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Genetics of age-related macular degeneration and Stargardt disease in South African populations
Published 2016Subjects: “…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 2017Subjects: “…Human Genetics…”
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Skin cells as a tool in genetic diagnosis of Duchenne muscular dystrophy
Published 2017Subjects: “…Human Genetics…”
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Association of variants in APOL1, MYH9 and HMOX1 WITH micro-Albuminuria among Sickle Cell disease patients from Cameroon
Published 2017Subjects: “…Human Genetics…”
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Single nucleotide polymorphism array analysis in copy number variant detection: assessment of its feasibility in the diagnostic setting
Published 2017Subjects: “…Human Genetics…”
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Genetic analysis of inherited retinal diseases in indigenous Southern African populations
Published 2017Subjects: “…Human Genetics…”
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An investigation into the molecular basis of familial forms of osteoarthropathy in South Africa
Published 2017Subjects: “…Human Genetics…”
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A molecular investigation of the novel gene underlying autosomal dominant retinitis pigmentosa in a South African family
Published 2018Subjects: “…Human Genetics…”
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The genetics of anthracycline-induced cardiotoxicity in cancer patients
Published 2018Subjects: “…Human Genetics…”
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