Detalhe da pesquisa
1.
Intermediate-effect size p.Arg637Gln in FHOD3 increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers.
J Med Genet
; 61(5): 423-427, 2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38160043
2.
Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers.
Transl Res
; 269: 47-63, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38395389