Francois Hendrikus van der Westhuizen

10PUBLICATIONS
72CO-AUTHORS
Metabolic medicineMedical biochemistry - proteins and peptides (incl. medical proteomics)Obstetrics and gynaecologyEpigenetics (incl. genome methylation and epigenomics)Gene mapping
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Publications (10)

|Jan 31, 2026
Bridging gaps in mitochondrial disease diagnosis: the role of advanced biomarker discovery.

Tendai Makwikwi, Maryke Schoonen, Izelle Smuts

|Sep 12, 2025
OXPHOS complex deficiency in congenital myopathy: A systematic review.

Megan J du Preez, Maryke Schoonen, Monray E Williams

|Feb 18, 2025
Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort.

Maryke Schoonen, Mahmoud Fassad, Krutik Patel

|Feb 09, 2024
Advancing diagnosis and research for rare genetic diseases in Indigenous peoples.

Gareth Baynam, Daria Julkowska, Sarah Bowdin

|Jan 14, 2024
Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.

Michelle Bisschoff, Izelle Smuts, Marli Dercksen

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