Browsing by Author Ferreira, Susana I.
Results 1 to 4 of 4
Issue Date | Title | Author(s) | Type | Access |
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2015 | Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients | Carreira, Isabel Marques ; Ferreira, Susana Isabel ; Matoso, Eunice ; Pires, Luís Miguel ; Ferrão, José ; Jardim, Ana ; Mascarenhas, Alexandra ; Pinto, Marta ; Lavoura, Nuno ; Pais, Claudia ; Paiva, Patrícia ; Simões, Lúcia ; Caramelo, Francisco ; Ramos, Lina ; Venâncio, Margarida ; Ramos, Fabiana; Beleza, Ana; Sá, Joaquim ; Saraiva, Jorge ; Melo, Joana Barbosa de | article | openAccess |
2-May-2012 | Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region | Ferreira, Susana Isabel ; Matoso, Eunice ; Venâncio, Margarida ; Saraiva, Jorge ; Melo, Joana B. ; Carreira, Isabel Marques | article | openAccess |
31-Aug-2021 | Prevalence of cytogenetic abnormalities and FMR1 gene premutation in a Portuguese population with premature ovarian insufficiency | Neves, Ana Raquel; Pais, Ana Sofia ; Ferreira, Susana Isabel ; Ramos, Vera; Carvalho, Maria João ; Estevinho, Alexandra ; Matoso, Eunice; Geraldes, Fernanda; Carreira, Isabel Marques ; Águas, Fernanda | article | openAccess |
20-Jul-2010 | X-chromosome terminal deletion in a female with premature ovarian failure: Haploinsufficiency of X-linked genes as a possible explanation | Ferreira, Susana I. ; Matoso, Eunice ; Pinto, Marta ; Almeida, Joana ; Liehr, Thomas ; Melo, Joana B. ; Carreira, Isabel M. | article | openAccess |