Detalhe da pesquisa
1.
Neuromuscular disease genetics in under-represented populations: increasing data diversity.
Brain
; 146(12): 5098-5109, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37516995
2.
Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.
Orphanet J Rare Dis
; 19(1): 15, 2024 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38221620
3.
The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia.
Front Neurol
; 14: 1239725, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37712079