Results for Division of Human Genetics

Results for Division of Human Genetics Showing 1 - 50 results of 78 Laminas_Feed_Writer 2 (https://getlaminas.org) https://search.frelip.org/Search/Results?sort=last_indexed+desc&limit=50&lookfor=Division+of+Human+Genetics&type=Publisher&lng=en 78 0 50 Whole exome sequencing to investigate genetic variants of non-syndromic hearing impairment in a population of African ancestry Wed, 10 Jun 2026 12:52:34 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F29272 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F29272 Manyisa, Noluthando Thesis 2019 Manyisa, Noluthando 0 Predictive testing and clinical genetic counselling services for Huntington disease in the Western Cape : an evaluation over eleven years Wed, 10 Jun 2026 12:52:12 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F3094 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F3094 Futter, Merle Thesis 2014 Futter, Merle 0 Significance of connexion genes in non-syndromic deafness in Africans Wed, 10 Jun 2026 12:51:47 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F3088 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F3088 Bosch, Jason Thesis 2014 Bosch, Jason 0 Genetic investigation of South Africans with the Noonan Syndrome phenotype using targeted next generation sequencing Wed, 10 Jun 2026 12:51:21 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F27376 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F27376 Ngongang Tekendo, Cedrik Thesis 2018 Ngongang Tekendo, Cedrik 0 Common ABCA4 mutations in South Africans: frequencies, pathogenicity and genotype-phenotype correlations Wed, 10 Jun 2026 12:50:35 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F3101 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F3101 Nossek, C Thesis 2014 Nossek, C 0 APOE, PCSK9, and CETP genetic variants as potential biomarkers of dyslipidaemia in black South Africans with Type 2 Diabetes Mellitus Wed, 10 Jun 2026 12:49:31 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F29630 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F29630 Evans, Jonathan Thesis 2019 Evans, Jonathan 0 Parents' perspectives and experiences of having a child with hereditary hearing loss Wed, 10 Jun 2026 12:48:56 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F22946 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F22946 Ross, Sinead Amber Thesis 2017 Ross, Sinead Amber 0 Microcomputer-assisted diagnosis of inherited disorders of the skeleton Wed, 10 Jun 2026 12:48:45 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F25754 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F25754 Van Greunen, Francois Thesis 2017 Van Greunen, Francois 0 The molecular genetic and epidemiological investigation of colorectal cancer in South Africa Wed, 10 Jun 2026 12:47:22 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F3093 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F3093 Felix, Rebecca Thesis 2014 Felix, Rebecca 0 Craniosynostosis in a South Africa population Wed, 10 Jun 2026 12:45:37 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F33611 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F33611 Crous, Ilse Thesis 2021 Crous, Ilse 0 Investigation of the ethnic differences and genetics of salt sensivity and salt-sensitive hypertension in South Africa Wed, 10 Jun 2026 12:45:20 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F3102 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F3102 Rayner, Brian L Thesis 2014 Rayner, Brian L 0 Identification of a suitable SNP for allele-specific silencing of the disease-causing gene in SCA1 patients in South Africa Wed, 10 Jun 2026 12:44:36 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F13436 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F13436 Baine, Fiona Kebirungi Thesis 2015 Baine, Fiona Kebirungi 0 Delineation of the genetic causes of complex epilepsies in South African pediatric patients Wed, 10 Jun 2026 12:44:28 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F38481 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F38481 Esterhuizen, Alina Thesis 2023 Esterhuizen, Alina 0 Leveraging the microbiome in host genome wide association studies Wed, 10 Jun 2026 12:43:51 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F33632 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F33632 Awany, Denis Thesis 2021 Awany, Denis 0 An investigation into the molecular basis of familial forms of osteoarthropathy in South Africa Wed, 10 Jun 2026 12:42:22 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F26327 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F26327 Ballo, Robea Thesis 2017 Ballo, Robea 0 Pharmacogenomics of sickle cell disease therapeutics: pain and drug metabolism associated gene variants and hydroxyurea-induced post-transcriptional expression of miRNAs Wed, 10 Jun 2026 12:42:08 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F36079 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F36079 Mnika,Khuthala Thesis 2022 Mnika,Khuthala 0 Genetics of age-related macular degeneration and Stargardt disease in South African populations Wed, 10 Jun 2026 12:42:02 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F20328 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F20328 Baard, Johannes Thesis 2016 Baard, Johannes 0 Towards identifying the ADRP gene in a large South African family with retinitis pigmentosa Wed, 10 Jun 2026 12:39:09 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F3095 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F3095 Goliath, René Thesis 2014 Goliath, René 0 Proteoglycan genes and anterior cruciate ligament injury susceptibility Wed, 10 Jun 2026 12:36:46 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F6670 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F6670 Mannion, Sasha Thesis 2014 Mannion, Sasha 0 Genetic analysis of bipolar disorder and alcohol use disorder Wed, 10 Jun 2026 12:36:34 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F16560 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F16560 Dalvie, Shareefa Thesis 2016 Dalvie, Shareefa 0 Perceptions of health-related quality of life among adults living with sickle cell disease in Cape Town, South Africa Wed, 10 Jun 2026 12:36:05 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F27841 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F27841 Ingram, Clair Thesis 2018 Ingram, Clair 0 Dental implications of genetic and congenital intellectual disabilities in Cape Town Wed, 10 Jun 2026 12:34:56 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F30084 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F30084 Roberts, Tina Sharon Thesis 2019 Roberts, Tina Sharon 0 The experiences of couples undergoing Preimplantation Genetic Diagnosis (PGD) at the Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital (SQUH) in Oman Wed, 10 Jun 2026 12:34:39 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F23776 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F23776 Al-Kharusi, Khalsa Thesis 2017 Al-Kharusi, Khalsa 0 Elucidation of bipolar disorder : a convergent approach using genetics and imaging Wed, 10 Jun 2026 12:34:33 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F10371 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F10371 Dalvie, Shareefa Thesis 2014 Dalvie, Shareefa 0 The role of epigenetic factors in the pathogenesis of familial X-linked mental retardation (XLMR) Wed, 10 Jun 2026 12:34:27 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F3090 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F3090 Carvill, Gemma Thesis 2014 Carvill, Gemma 0 Sickle cell trait and targeted genomic variants in chronic kidney disease an African cohort Wed, 10 Jun 2026 12:34:27 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F31357 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F31357 Masekoameng, Tshepiso Thesis 2020 Masekoameng, Tshepiso 0 Development of a SCA7 patient-derived lymphoblast cell model for testing RNAi knock-down of the disease-causing gene Wed, 10 Jun 2026 12:34:25 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F10123 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F10123 Berkowitz, Danielle Claire Thesis 2014 Berkowitz, Danielle Claire 0 The molecular investigation of Stargardt disease in South Africa Wed, 10 Jun 2026 12:34:23 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F3105 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F3105 September, Alison Thesis 2014 September, Alison 0 Virus restriction gene variants and their possible role in neurocognitive function in children born to HIV-infected mothers Wed, 10 Jun 2026 12:34:20 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F3100 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F3100 Mhandire, Kudakwashe Thesis 2014 Mhandire, Kudakwashe 0 Elucidating the genetic aetiology of Bipolar Disorder Wed, 10 Jun 2026 12:34:14 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F36751 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F36751 Engelbrecht, Hannah-Ruth Thesis 2022 Engelbrecht, Hannah-Ruth 0 Exploring the decision making process of women offered termination of pregnancy for serious congenital abnormality Wed, 10 Jun 2026 12:34:10 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F27900 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F27900 Malope, Malebo Felicia Thesis 2018 Malope, Malebo Felicia 0 Pharmacogenetics of African populations : variation in major drug metabolising enzyme genes and potential impact on personalised medicine. Wed, 10 Jun 2026 12:34:08 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F3097 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F3097 Matimba, Alice Thesis 2014 Matimba, Alice 0 Novel cell models for the study of spinocerebellar ataxia type 7 pathogenesis and therapy in a South African patient cohort Wed, 10 Jun 2026 12:34:00 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F3108 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F3108 Watson, Lauren Thesis 2014 Watson, Lauren 0 Chemotherapeutic drugs, 5-fluorouracil and cisplatin, differentially affect exprssion of drug metabolising enzyme genes in an oesophageal cancer cell line Wed, 10 Jun 2026 12:33:49 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F6575 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F6575 Hassen, Naseeha Thesis 2014 Hassen, Naseeha 0 Knowledge and experiences of parents with children affected by Sickle Cell Disease in Cape Town Wed, 10 Jun 2026 12:33:48 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F16652 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F16652 Van Niekerk, Katryn Thesis 2016 Van Niekerk, Katryn 0 Young adults' perceptions of the implications of their hereditary, visual impairment: A Cape Town based study Wed, 10 Jun 2026 12:33:48 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F28181 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F28181 Popel, Kalinka Thesis 2018 Popel, Kalinka 0 Elucidating the molecular basis of a novel autosomal dominant fibrotic syndrome Wed, 10 Jun 2026 12:33:48 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F3107 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F3107 Watson, Lauren Thesis 2014 Watson, Lauren 0 Women's experiences of receiving a child's fetal alcohol spectrum disorder diagnosis: a Western Cape study Wed, 10 Jun 2026 12:33:45 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F16922 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F16922 Shaw, Tarryn Thesis 2016 Shaw, Tarryn 0 Investigating the genetic basis of cisplatin-induced ototoxicity in adult South African patients Wed, 10 Jun 2026 12:33:40 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F20540 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F20540 Spracklen, Timothy Francis Thesis 2016 Spracklen, Timothy Francis 0 Pharmacogenomic profiling and clarification of the role of the mismatch repair genes in response to the chemotherapeutic agent 5-Fluorouracil in a South African colorectal cancer cohort Wed, 10 Jun 2026 12:33:33 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F3099 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F3099 Meyer, Jacqueline Thesis 2014 Meyer, Jacqueline 0 Sickle cell anaemia in Cameroon : co-inheritance of α-thalassemia, HBB gene haplotypes, clinical & haematological characterisations Wed, 10 Jun 2026 12:33:31 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F15697 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F15697 Rumaney, Maryam Thesis 2015 Rumaney, Maryam 0 Duchenne muscular dystrophy in South Africa : molecular aspects Wed, 10 Jun 2026 12:33:28 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F38812 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F38812 Ballo, Robea Thesis 2023 Ballo, Robea 0 Dental implications of inherited connective tissue disorders in South Africa Wed, 10 Jun 2026 12:33:25 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F20851 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F20851 Chetty, Manogari Thesis 2016 Chetty, Manogari 0 A clinical and molecular investigation of two families with Simpson-Golabi-Behmel syndrome Wed, 10 Jun 2026 12:33:17 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F6006 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F6006 Pretorius, Careni Elizabeth Thesis 2014 Pretorius, Careni Elizabeth 0 A molecular approach to Huntington disease in Southern Africa Wed, 10 Jun 2026 12:33:13 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F26157 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F26157 Greenberg, Leslie J H L Thesis 2017 Greenberg, Leslie J H L 0 Genetic disorders on the island of Mauritius Wed, 10 Jun 2026 12:32:58 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F26606 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F26606 Wallis, Colin E Thesis 2017 Wallis, Colin E 0 The molecular genetic investigation of bipolar disorder in South Africa Wed, 10 Jun 2026 12:32:58 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F3091 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F3091 Cupido, Cinda-Lee Thesis 2014 Cupido, Cinda-Lee 0 Leveraging genotypes imputation and polygenic risk scores in malaria susceptibility Wed, 10 Jun 2026 12:32:58 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F32271 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F32271 Kimathi, Peter Opiyo Thesis 2020 Kimathi, Peter Opiyo 0 Huntington’s chorea in South Africa Wed, 10 Jun 2026 12:32:51 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F12684 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F12684 Hayden, Michael Reuben Thesis 2015 Hayden, Michael Reuben 0 Understanding doctors' knowledge and attitudes concerning genetics and genetic services in South Africa Wed, 10 Jun 2026 12:32:50 +0000 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F16487 https://search.frelip.org/Record/oai:open.uct.ac.za:11427%2F16487 Düsterwald, Gillian Thesis 2016 Düsterwald, Gillian 0