Unit for Multidisciplinary Research in Biomedicine

Nuno Maia, MSc

Selected publications:

1. Nuno Maia, Joana R Loureiro, Bárbara Oliveira, Isabel Marques, Rosário Santos, Paula Jorge, Sandra Martins, Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events, J Hum Genet, 2017;62(2):269-75. doi:10.1038/jhg.2016.122.

2. Nuno Maia, Maria João Nabais Sá, Nataliya Tkachenko, Gabriela Soares, Isabel Marques, Bárbara Rodrigues, Ana Maria Fortuna, Rosário Santos, Arjan PM de Brouwer, Paula Jorge. Two novel pathogenic MID1 variants and genotype-phenotype correlation reanalysis in X-linked Opitz G/BBB syndrome, Mol Syndromol, 2018;9:45-5. doi:10.1159/000479177.