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Nuno Miguel da Silva Maia

AuthID: R-00H-H5S

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Confirmed Publications: 4

1

TITLE: A tailored stepwise strategy for improving diagnostic yield in intellectual disability and developmental disorders Full Text
AUTHORS: Maia, Nuno ; de Brouwer, Arjan P. M.; Jorge, Paula ;
PUBLISHED: 2023, SOURCE: 55th European-Society-of-Human-Genetics (ESHG) Conference in EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 31

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2

TITLE: Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder? Full Text
AUTHORS: Maia, N ; Sa, MJN; Cláudia Oliveira ; Santos, F; Soares, CA; Prior, C; Tkachenko, N; Santos, R; de Brouwer, APM; Jacome, A; Porto, B; Jorge, P;
PUBLISHED: 2022, SOURCE: GENES, VOLUME: 13, ISSUE: 1

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3

TITLE: Use of the FMR1 Gene Methylation Status to Assess the X-Chromosome Inactivation Pattern: A Stepwise Analysis Full Text
AUTHORS: Rodrigues, Barbara ; Goncalves, Ana ; Sousa, Vanessa; Maia, Nuno ; Marques, Isabel ; Vale Fernandes, Emidio ; Santos, Rosario; Nogueira, Antonio J. A.; Jorge, Paula;
PUBLISHED: 2022, SOURCE: GENES, VOLUME: 13, ISSUE: 3

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4

TITLE: High performing AmplideX PCR/CE for Myotonic Dystrophy type 1 is concordant with a combination of PCR and Southern Blot analysis Full Text
AUTHORS: Isabel Marques ; Nuno Maia ; Rosario Santos, MR ;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26

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