Search Results - "Exomes"

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  1. Optimising a clinical whole exome sequencing pipeline: diagnosing South African patients with osteogenesis imperfecta by Coetzer, Kimberly Christine

    Published 2022
    Subjects: “…Exomes…”
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    Thesis
  2. Hepatitis b virus-related hepatocellular carcinoma in south africa: investigations into the risk profile of a previously unscreened population from the Western Cape by Chotun, Bibi Nafiisah

    Published 2018
    Subjects: “…Exomes…”
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    Thesis
  3. Investigation of genetic variation contributing to antipsychotic treatment response in a South African first episode schizophrenia cohort by Drogemoller, Britt Ingrid

    Published 2013
    Subjects: “…Exome sequencing…”
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    Thesis
  4. Characterisation of SNPs associated with growth rate in dusky kob (Argyrosomus japonicus), using exome sequencing by Jackson, Tassin Kim

    Published 2020
    Subjects: “…Exomes…”
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    Thesis
  5. A phenotypic approach to diagnosing Neurodevelopmental disorders in South African patients using clinical exome sequencing and bioinformatic pipelines by Ismail, Rafiya

    Published 2023
    Subjects: “…Rare diseases, Exome sequencing, Neurodevelopmental disorders, South Africa, Undiagnosed Disease Programme…”
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    Thesis
  6. 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... by Mohammed, Hiba Hamid Ahmed

    Published 2023
    Subjects: “…Whole exome sequencing…”
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    Thesis
  7. Investigation of the role of vitamin D metabolism in South African breast cancer patients using a pathology-supported genetic testing platform by Okunola, Abisola Oyedele

    Published 2020
    Subjects: “…Whole exome sequencing…”
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    Thesis
  8. The utilisation of whole exome sequencing to dissect the genetic aetiology of familial Parkinson’s disease in a South African Afrikaner family by Sebate, Boiketlo

    Published 2019
    Subjects: “…Exome sequencing…”
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    Thesis
  9. Identification of novel Parkinson’s disease genes in the South African population using a whole exome sequencing approach by Glanzmann, Brigitte

    Published 2016
    Subjects: “…Whole exome sequencing approach…”
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    Thesis
  10. Development of a variant prioritisation algorithm for personalised medicine using an integrated service and research approach by Robertson, Duncan James

    Published 2025
    Subjects: “…Whole genome/Exome sequencing -- Technique…”
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    Thesis
  11. Deciphering genetic susceptibility to tuberculous meningitis by Bowker, Nicholas Grant

    Published 2016
    Subjects: “…Exome Sequencing…”
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    Thesis