Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region

por Ferreira, Susana Isabel, Matoso, Eunice, Venâncio, Margarida, Saraiva, Jorge, Melo, Joana B, Carreira, Isabel Marques
Publicado 2012

Copy number variants prioritization after array-CGH analysis – a cohort of 1000 patients

por Carreira, Isabel Marques, Ferreira, Susana Isabel, Matoso, Eunice, Pires, Luís Miguel, Ferrão, José, Jardim, Ana, Mascarenhas, Alexandra, Pinto, Marta, Lavoura, Nuno, Pais, Cláudia, Paiva, Patrícia, Simões, Lúcia, Caramelo, Francisco, Ramos, Lina, Venâncio, Margarida, Ramos, Fabiana, Beleza, Ana, Sá, Joaquim, Saraiva, Jorge, de Melo, Joana Barbosa
Publicado 2015