Maria João Nabais Sá


AuthID: R-000-VYD

Confirmed Publications: 4



1
TITLE: Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis
AUTHORS: Sa, MJN ; Miller, KA; McQuaid, M; Koelling, N; Wilkie, AOM; Wurtele, H; De Brouwer, APM; Oliveira, J;
PUBLISHED: 2021, SOURCE: JOURNAL OF MEDICAL GENETICS
INDEXED IN: WOS
2
TITLE: Intellectual disability genomics: current state, pitfalls and future challenges
AUTHORS: Maia, N; Sa, MJN ; Melo Pires, M; de Brouwer, APM; Jorge, P;
PUBLISHED: 2021, SOURCE: BMC GENOMICS, VOLUME: 22, ISSUE: 1
INDEXED IN: WOS CrossRef: 38
3
TITLE: Genomic imbalances defining novel intellectual disability associated loci
AUTHORS: Lopes, F; Torres, F; Soares, G; Barbosa, M; Silva, J; Duque, F; Rocha, M; Sa, J; Oliveira, G; Sa, MJ ; Temudo, T; Sousa, S; Marques, C; Lopes, S; Gomes, C; Barros, G; Jorge, A; Rocha, F; Martins, C; Mesquita, S; Loureiro, S; Cardoso, EM; Calix, MJ; Dias, A; Martins, C; Mota, CR; Antunes, D; Dupont, J; Figueiredo, S; Figueiroa, S; Gama de Sousa, S; Cruz, S; Sampaio, A; Eijk, P; Weiss, MM; Ylstra, B; Rendeiro, P; Tavares, P; Reis Lima, M; Pinto Basto, J; Fortuna, AM; Maciel, P; ...More
PUBLISHED: 2019, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 14, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 4
IN MY: ORCID
4
TITLE: Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome
AUTHORS: Maia, N; Sa, MJN ; Tkachenko, N; Soares, G; Marques, I; Rodrigues, B; Fortuna, AM; Santos, R; de Brouwer, APM; Jorge, P;
PUBLISHED: 2018, SOURCE: MOLECULAR SYNDROMOLOGY, VOLUME: 9, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 3
IN MY: ORCID

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