Maria João Sá

Genomic imbalances defining novel intellectual disability associated loci

F. Duque, G. Oliveira, B. Ylstra, 2019, Orphanet Journal of Rare Diseases.

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach

K. Friend, A. Fortuna, C. Shoubridge, 2015, Molecular genetics & genomic medicine.

Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels.

E. Martins, A. Fortuna, J. Rocha, 2016, JIMD reports.