Detalhe da pesquisa
1.
Functional characterization of novel or yet uncharacterized ATP7B missense variants detected in patients with clinical Wilson's disease.
Clin Genet
; 104(2): 174-185, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37157876
2.
Extrahepatic manifestations of progressive familial intrahepatic cholestasis syndromes: Presentation of a case series and literature review.
Liver Int
; 42(5): 1084-1096, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35184362
3.
Functional characterization of a JAG1 5'UTR variant in a patient with clinically observed Alagille syndrome.
Clin Genet
; 102(3): 248-250, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35761784