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Issue DateTitleAuthor(s)TypeAccess Type
2015Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patientsCarreira, IM; Ferreira, SI; Matoso, E; Pires, LM; Ferrão, J; Jardim, A; Mascarenhas, A; Pinto, M; Lavoura, N; Pais, C; Paiva, P; Simões, L; Caramelo, F; Ramos, L; Venâncio, M; Ramos, F; Beleza, A; Sá, J; Saraiva, J; Barbosa de Melo, JarticleopenAccess
2011Hiperplasia congénita da supra-renal: quando o mesmo genótipo tem diferentes fenótiposCordinhã, C; Morais, S; Cardoso, R; Ramos, L; Taborda, A; Mirante, AarticleopenAccess
2013Description of an autosomal dominant form of Kabuki syndrome by mutation in MLL2 geneSantos, MI; Beleza-Meireles, A; Loureiro, S; Fonseca, M; Reis, CF; Rodrigues, F; Ramos, F; Ramos, L; Cardoso, E; Saraiva, JMarticleopenAccess
2013Intellectual disability, unusual facial morphology and hand anomalies in sibsSousa, SB; Venâncio, M; Chanudet, E; Palmer, R; Ramos, L; Beales, PL; Moore, GE; Saraiva, JM; Hennekam, RCarticleopenAccess
2010Dilated fetal bowel as indication for prenatal diagnosis of cystic fibrosisSoares, R; Neto, P; Pereira, N; Cunha, C; Pinto, C; Fonseca, M; Ramos, L; Galhano, EarticleopenAccess

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