Detalhe da pesquisa
1.
Invasive cerebral phaeohyphomycosis in a Chinese boy with CARD9 deficiency and showing unique radiological features, managed with surgical excision and antifungal treatment.
Int J Infect Dis
; 107: 59-61, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33872781
2.
Coexistence of paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p hyperinsulinism.
Int J Pediatr Endocrinol
; 2020: 13, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32670376
3.
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese.
NPJ Genom Med
; 4: 18, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31396399