Nuno Maia

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Invited associated professor

Instituto Politécnico de Leiria

Portugal

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Recent Grants

Grant: Close

Finding the X-EPIgeneTic burden in FEmale infertility - X-EPIFERTILITY

Open Date: 2021-01-01

Close Date:

Grant: Close

Molecular causes of intellectual disability and developmental disorders

Open Date: 2015-06-20

Close Date: 2022-05-27

Articles (10)

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2023

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2022

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2022

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2022

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2021

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2021

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2021

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2020

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2020

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2020

Collaborators (8)

António Nogueira

Full Professor

Universidade de Aveiro

PORTUGAL

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Katrien Stouffs

Vrije Universiteit Brussel

BELGIUM

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Ana Gonçalves

PORTUGAL

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Arjan P. M. de Brouwer

NETHERLANDS

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Mari Mori

Assistant Professor

Ohio State University

UNITED STATES

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Karen Sermon

Vrije Universiteit Brussel

BELGIUM

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Joana Damásio

Instituto Universitário de Ciências da Saúde

PORTUGAL

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Alexander Gheldof

Vrije Universiteit Brussel

BELGIUM

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Nuno Maia

Research Interests

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Recent Grants

Articles (10)

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder

Use of the FMR1 Gene Methylation Status to Assess the X-Chromosome Inactivation Pattern: A Stepwise Analysis

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

Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?

Intellectual disability genomics: current state, pitfalls and future challenges

Development and validation in 500 female samples of a TP-PCR assay to identify AFF2 GCC expansions

Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB

Development and Validation of a Mathematical Model to Predict the Complexity of FMR1 Allele Combinations

Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20

Collaborators (8)

António Nogueira

Katrien Stouffs

Ana Gonçalves

Arjan P. M. de Brouwer

Mari Mori

Karen Sermon

Joana Damásio

Alexander Gheldof

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