Detalhe da pesquisa
1.
Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape.
Orphanet J Rare Dis
; 18(1): 43, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36859275
2.
Founder Mutation c.1516A>C in KLHL40 Is a Frequent Cause of Nemaline Myopathy With Hyponatremia in Ethnic Chinese.
J Neuropathol Exp Neurol
; 78(9): 854-864, 2019 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31360996