Detalhe da pesquisa
1.
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.
Clin Genet
; 105(6): 620-629, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38356149
2.
Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants.
Orphanet J Rare Dis
; 18(1): 271, 2023 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37670342