A bioinformatics pipeline for rare genetic diseases in South African patients by Maryke Schoonen, Albertus S. Seyffert, Francois H. van der Westhuizen, Izelle Smuts

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A case for genomic medicine in South African paediatric patients with neuromuscular disease by Sharika V. Raga, Jo Madeleine Wilmshurst, Izelle Smuts, Surita Meldau, Soraya Bardien, Soraya Bardien, Maryke Schoonen, Francois Hendrikus van der Westhuizen

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Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study by Michelle Bisschoff, Izelle Smuts, Marli Dercksen, Maryke Schoonen, Barend C. Vorster, George van der Watt, Careni Spencer, Kireshnee Naidu, Franclo Henning, Surita Meldau, Robert McFarland, Robert W. Taylor, Krutik Patel, Mahmoud R. Fassad, Jana Vandrovcova, The ICGNMD Consortium, Ronald J. A. Wanders, Francois H. van der Westhuizen

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