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Search Results - "Exomes"
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Optimising a clinical whole exome sequencing pipeline: diagnosing South African patients with osteogenesis imperfecta
Published 2022Subjects: “…Exomes…”
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Hepatitis b virus-related hepatocellular carcinoma in south africa: investigations into the risk profile of a previously unscreened population from the Western Cape
Published 2018Subjects: “…Exomes…”
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Investigation of genetic variation contributing to antipsychotic treatment response in a South African first episode schizophrenia cohort
Published 2013Subjects: “…Exome sequencing…”
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Characterisation of SNPs associated with growth rate in dusky kob (Argyrosomus japonicus), using exome sequencing
Published 2020Subjects: “…Exomes…”
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A phenotypic approach to diagnosing Neurodevelopmental disorders in South African patients using clinical exome sequencing and bioinformatic pipelines
Published 2023Subjects: “…Rare diseases, Exome sequencing, Neurodevelopmental disorders, South Africa, Undiagnosed Disease Programme…”
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Clinical utility of next-generation sequencing in children with cryptogenic cerebral palsy; a cohort study from a tertiary paediatric neurology clinic in the Western Cape Province...
Published 2023Subjects: “…Whole exome sequencing…”
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Investigation of the role of vitamin D metabolism in South African breast cancer patients using a pathology-supported genetic testing platform
Published 2020Subjects: “…Whole exome sequencing…”
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The utilisation of whole exome sequencing to dissect the genetic aetiology of familial Parkinson’s disease in a South African Afrikaner family
Published 2019Subjects: “…Exome sequencing…”
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Identification of novel Parkinson’s disease genes in the South African population using a whole exome sequencing approach
Published 2016Subjects: “…Whole exome sequencing approach…”
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Development of a variant prioritisation algorithm for personalised medicine using an integrated service and research approach
Published 2025Subjects: “…Whole genome/Exome sequencing -- Technique…”
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Deciphering genetic susceptibility to tuberculous meningitis
Published 2016Subjects: “…Exome Sequencing…”
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