The advent of genetic technologies has been reducing the time and cost attached to diagnosing rare genetic diseases.
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Articles sur exome sequencing
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The discovery of a rare gene is twofold, and has a scientific and clinical impact in the fight against heart muscle disease.
New genetic mutations which cause severe epilepsy have been identified. Analysing 4,000 genomes from epilepsy patients, two…
Les contributeurs les plus fréquents
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Dean and Professor of Medicine at the Faculty of Health Science, University of Cape Town
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Specialist Scientist, Tuberculosis Host Genetics, Division of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Stellenbosch University
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Professor in the Division of Molecular Biology and Human Genetics in Department of Biomedical Sciences, Stellenbosch University
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Postdoctoral fellow in the Division of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Stellenbosch University
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Head of the Clinical Unit of Medical Genetics and Genetic Counselling, Stellenbosch University
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Specialist Rheumatologist, Senior Lecturer in Paediatrics and Child Health, Stellenbosch University
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Post-doctoral research fellow in the division of Molecular Biology and Human Genetics, Stellenbosch University
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Researcher in the Division of Molecular Biology and Human Genetics, Stellenbosch University
