J. Pereira

Glucose-6-phosphate dehydrogenase deficiency in Portugal: biochemical and mutational profiles, heterogeneity, and haplotype association.

A. Freire, C. Monteiro, M. Martins, 2002, Blood cells, molecules & diseases.

Identification of a novel pathogenic variant in FBN1 associated with Marfan syndrome

G. M. Dias, J. Pereira, Juliana R Ferreira, 2022, Cold Spring Harbor molecular case studies.

Do ribosomopathies explain some cases of common variable immunodeficiency?

W. Sewell, A. Huissoon, S. Holding, 2011, Clinical and experimental immunology.