Pesquisar


Filtros correntes:
Iniciar uma nova pesquisa
Adicionar filtros:

Utilizar filtros para refinar o resultado da pesquisa.


Resultados 1-7 de 7.
  • Anterior
  • 1
  • Próxima
Registos:
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
2012Avaliação e Investigação Etiológica do Atraso do Desenvolvimento Psicomotor / Défice IntelectualOliveira, R; Rodrigues, F; Venâncio, M; Saraiva, JM; Fernandes, BarticleopenAccess
2012Inv21p12q22del21q22 and intellectual disabilityOliveira, R; Dória, S; Madureira, C; Lima, V; Almeida, C; Pinho, MJ; Ramalho, C; Matoso, E; Barros, A; Carreira, IM; Moura, CParticleopenAccess
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
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
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
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