Professor Bobby McFarland
Professor Robert Taylor
Krutik Patel
Dr Mahmoud Fassad
| Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study | 2024 |
|
Dr Ana Topf
Daniel Cox
Dr Valeria Di Leo
Professor Chiara Marini Bettolo
Professor Jordi Diaz Manera
et al. | Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy | 2024 |
|
Dr William Macken
Dr Mahmoud Fassad
Dr Fei Gao
Krutik Patel
Dr Ana Topf
et al. | Neuromuscular disease genetics in under-represented populations: increasing data diversity | 2023 |
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