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A phenotypic approach to diagnosing Neurodevelopmental disorders in South African patients using clinical exome sequencing and bioinformatic pipelines
Biomedical Sciences: Molecular Biology and Human Genetics
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| Main Author: | |
|---|---|
| Other Authors: | |
| Format: | Thesis |
| Language: | en_ZA |
| Published: |
2023
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| _version_ | 1867613765511413760 |
|---|---|
| access_status_str | Open Access |
| author | Ismail, Rafiya |
| author2 | Moosa, Shahida |
| author_browse | Ismail, Rafiya Moosa, Shahida |
| author_facet | Moosa, Shahida Ismail, Rafiya |
| author_sort | Ismail, Rafiya |
| collection | Thesis |
| description | Biomedical Sciences: Molecular Biology and Human Genetics |
| format | Thesis |
| id | oai:scholar.sun.ac.za:10019.1/129395 |
| institution | Stellenbosch University (South Africa) |
| language | en_ZA |
| last_indexed | 2026-06-10T12:41:20.497Z |
| license_str | Not specified — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from SUNScholar — Stellenbosch University Repository |
| publishDate | 2023 |
| publishDateRange | 2023 |
| publishDateSort | 2023 |
| record_format | dspace |
| source_str | SUNScholar — Stellenbosch University Repository |
| spelling | oai:scholar.sun.ac.za:10019.1/129395 A phenotypic approach to diagnosing Neurodevelopmental disorders in South African patients using clinical exome sequencing and bioinformatic pipelines Ismail, Rafiya Moosa, Shahida Rare diseases, Exome sequencing, Neurodevelopmental disorders, South Africa, Undiagnosed Disease Programme Biomedical Sciences: Molecular Biology and Human Genetics 2023-11-16T09:12:33Z 2024-02-20T10:04:04Z 2023-11-16T09:12:33Z 2024-02-20T10:04:04Z 2023-11 Masters https://scholar.sun.ac.za/handle/10019.1/129395 en_ZA application/pdf |
| spellingShingle | Rare diseases, Exome sequencing, Neurodevelopmental disorders, South Africa, Undiagnosed Disease Programme Ismail, Rafiya A phenotypic approach to diagnosing Neurodevelopmental disorders in South African patients using clinical exome sequencing and bioinformatic pipelines |
| thesis_degree_str | Master's |
| title | A phenotypic approach to diagnosing Neurodevelopmental disorders in South African patients using clinical exome sequencing and bioinformatic pipelines |
| title_full | A phenotypic approach to diagnosing Neurodevelopmental disorders in South African patients using clinical exome sequencing and bioinformatic pipelines |
| title_fullStr | A phenotypic approach to diagnosing Neurodevelopmental disorders in South African patients using clinical exome sequencing and bioinformatic pipelines |
| title_full_unstemmed | A phenotypic approach to diagnosing Neurodevelopmental disorders in South African patients using clinical exome sequencing and bioinformatic pipelines |
| title_short | A phenotypic approach to diagnosing Neurodevelopmental disorders in South African patients using clinical exome sequencing and bioinformatic pipelines |
| title_sort | phenotypic approach to diagnosing neurodevelopmental disorders in south african patients using clinical exome sequencing and bioinformatic pipelines |
| topic | Rare diseases, Exome sequencing, Neurodevelopmental disorders, South Africa, Undiagnosed Disease Programme |
| url | https://scholar.sun.ac.za/handle/10019.1/129395 |
| work_keys_str_mv | AT ismailrafiya aphenotypicapproachtodiagnosingneurodevelopmentaldisordersinsouthafricanpatientsusingclinicalexomesequencingandbioinformaticpipelines AT ismailrafiya phenotypicapproachtodiagnosingneurodevelopmentaldisordersinsouthafricanpatientsusingclinicalexomesequencingandbioinformaticpipelines |