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Resultados 1-10 de 16.
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DataTítuloAutor(es)TipoAcesso
2013Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndromeSousa, SB; Jenkins, D; Chanudet, E; Tasseva, G; Ishida, M; Anderson, G; Docker, J; Ryten, M; Sá, J; Saraiva, JM; Barnicoat, A; Scott, R; Calder, A; Wattanasirichaigoon, D; Chrzanowska, K; Simandlová, M; Van Maldergem, L; Stanier, P; Beales, PL; Vance, JE; Moore, GEarticleopenAccess
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
2014Regarding the article "Adults with Down syndrome: characterization of a Portuguese sample"Saraiva, JMarticleopenAccess
Out-2014Oculo-auriculo-vertebral spectrum: a review of the literature and genetic updateBeleza-Meireles, AF; Clayton-Smith, J; Saraiva, JM; Tassabehji, MarticleopenAccess
6-Nov-2014Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndromeThomas, AC; Williams, H; Setó-Salvia, N; Bacchelli, C; Jenkins, D; O'Sullivan, M; Mengrelis, K; Ishida, M; Ocaka, L; Chanudet, E; James, C; Lescai, F; Anderson, G; Morrogh, D; Ryten, M; Duncan, AJ; Pai, YJ; Saraiva, JM; Ramos, F; Farren, B; Saunders, D; Vernay, B; Gissen, P; Straatmaan-Iwanowska, A; Baas, F; Wood, NW; Hersheson, J; Houlden, H; Hurst, J; Scott, R; Bitner-Glindzicz, M; Moore, GE; Sousa, SB; Stanier, ParticleopenAccess
Jan-2014Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sistersSousa, SB; Ramos, F; Garcia, P; Pais, RP; Paiva, C; Beales, PL; Moore, GE; Saraiva, JM; Hennekam, RCarticleopenAccess
2014Regarding the article "Adults with Down syndrome: characterization of a Portuguese sample"Saraiva, JMarticleopenAccess
2011Hiperplasia congénita da supra-renal: quando o mesmo genótipo tem diferentes fenótiposCordinhã, C; Morais, S; Cardoso, R; Ramos, L; Taborda, A; Mirante, AarticleopenAccess
2012Avaliação e Investigação Etiológica do Atraso do Desenvolvimento Psicomotor / Défice IntelectualOliveira, R; Rodrigues, F; Venâncio, M; Saraiva, JM; Fernandes, BarticleopenAccess
2013Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: Surgical approachOliveira, PH; Cunha, C; Almeida, S; Ferreira, R; Maia, S; Saraiva, JM; Lopes, MFarticleopenAccess