Nuno Maia
6PUBLICATIONS
17CO-AUTHORS
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Publications (6)
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|Oct 22, 2022
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.Nuno Maia, Nekane Ibarluzea, Mala Misra-Isrie
|Mar 25, 2022
Use of the FMR1 Gene Methylation Status to Assess the X-Chromosome Inactivation Pattern: A Stepwise Analysis.Bárbara Rodrigues, Ana Gonçalves, Vanessa Sousa
|Jan 21, 2022
Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?Nuno Maia, Maria João Nabais Sá, Cláudia Oliveira
|Dec 21, 2021
Intellectual disability genomics: current state, pitfalls and future challenges.Nuno Maia, Maria João Nabais Sá, Manuel Melo-Pires
|Dec 28, 2020
Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in MYO7A and NEB.Nuno Maia, Ana Rita Soares, Ana Maria Fortuna
|Oct 28, 2016
Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events?Nuno Maia, Joana R Loureiro, Bárbara Oliveira
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Frequent Collaborators
3 joint publications
Arjan P M de Brouwer
2 joint publications
Isabel Marques
2 joint publications
Ana Gonçalves
2 joint publications
Rosário Santos
2 joint publications
Paula Jorge
1 joint publications
Ana Rita Soares
1 joint publications
Ana Maria Fortuna
1 joint publications
Manuel Melo Pires
1 joint publications
Cláudia Oliveira
1 joint publications
Ariana Jacome
