Browsing by Author Matoso, Eunice

Results 1 to 5 of 5
Issue DateTitleAuthor(s)TypeAccess
2015Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patientsCarreira, 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 articleopenAccess
2-May-2012Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome regionFerreira, Susana Isabel ; Matoso, Eunice ; Venâncio, Margarida ; Saraiva, Jorge ; Melo, Joana B. ; Carreira, Isabel Marques articleopenAccess
2009Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 → qter) detected in an autistic boyCarreira, Isabel M. ; Melo, Joana B. ; Rodrigues, Carlos F. D. ; Backx, Liesbeth; Vermeesch, Joris; Weise, Anja; Kosyakova, Nadezda; Oliveira, Guiomar ; Matoso, Eunice articleopenAccess
2003Partial Tetrasomy of Chromosome 3q and Mosaicism in a Child with AutismOliveira, Guiomar ; Matoso, Eunice ; Vicente, Astrid ; Ribeiro, Patricia ; Marques, Carla ; Ataíde, Assunção ; Miguel, Teresa ; Saraiva, Jorge ; Carreira, Isabel articleopenAccess
20-Jul-2010X-chromosome terminal deletion in a female with premature ovarian failure: Haploinsufficiency of X-linked genes as a possible explanationFerreira, Susana I. ; Matoso, Eunice ; Pinto, Marta ; Almeida, Joana ; Liehr, Thomas ; Melo, Joana B. ; Carreira, Isabel M. articleopenAccess