Nuno Miguel da Silva Maia


AuthID: R-00H-H5S

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
INDEXED IN: WOS
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
INDEXED IN: Scopus WOS CrossRef
3
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
INDEXED IN: WOS

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