Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone?

por Medeiros, A. M., Bourbon, M.
Publicado 2023

Key issues for implementation of Genomics in Healthcare: a Policy Brief

por Costa, A, Merchant, A, Lopes, MF, Konopko, M, Cardoso, ML, Sitjà, X, Bourbon, M, Scollen, S, Vicente, A
Publicado 2022

Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity

por Fernández-Higuero, J. A., Etxebarria, A., Benito-Vicente, A., Alves, A. C., Arrondo, J. L. R., Ostolaza, H., Bourbon, M., Martin, C.
Publicado 2015