Concepedia

Nuno Maia

NM

2

Publications

31

Citations

2

H-Index

2016

Active since

Affiliations

Centro Hospitalar do Porto(Current)

i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto

Centro de Genética Clínica

Universidade do Porto

Nuno Maia is an author at Centro Hospitalar do Porto specializing in medicine, evolutionary biology, and population genetics.

Top concepts

MedicineGeneticsPathologySclerodermaGenetic VariationFragile X SpectrumPopulation GeneticsEvolutionary BiologyGenetic EpidemiologyDevelopmental Biology

Publications per year

2016–2022

2

Publications

2

Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events?

Nuno Maia, Joana R. Loureiro, Bárbara Oliveira et al. · Journal of Human Genetics · 2016 · 18 citations · Full text

Rare Events, Allelic Variant, Haplotype Determination +10

Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes

Sabrina Neri, Nuno Maia, Ana María Fortuna et al. · European Journal of Medical Genetics · 2022 · 13 citations

Developmental Anomaly, Developmental Biology, Genetic Disorder +7

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