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Issue DateTitleAuthor(s)TypeAccess Type
2010Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study-screening genetic conditions in Portuguese young stroke patientsBaptista, V; Ferreira, S; Pinho-e-Melo, T; Carvalho, M; Cruz, V; Carmona, C; Silva, F; Tuna, A; Rodrigues, M; Ferreira, C; Pinto, A; Leitão, A; Gabriel, J; Calado, S; Oliveira, J; Ferro, JarticleopenAccess
2005Nonsense mutation in TITF1 in a Portuguese family with benign hereditary choreaCosta, MC; Costa, C; Silva, A; Evangelista, P; Santos, L; Ferro, A; Sequeiros, J; Maciel, ParticleopenAccess
2014Esclerosis múltiple y decisión de la maternidad: estudio observacional en pacientes portuguesasCarvalho, A; Veiga, A; Morgado, J; Tojal, R; Rocha, S; Vale, J; Sá, MJ; Timóteo, AarticleopenAccess
2002Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.Silveira, I; Miranda, C; Guimarães, L; Moreira, MC; Alonso, I; Mendonça, P; Ferro, A; Pinto-Basto, J; Coelho, J; Ferreirinha, F; Poirier, J; Parreira, E, et al.articleopenAccess
2014Multiple sclerosis and motherhood choice: an observational study in Portuguese women patients.Carvalho, A; Veiga, A; Morgado, J; Tojal, R; Rocha, S; Vale, J; Sa, MJ; Timoteo, AarticleopenAccess
2017Screening for Pompe disease in a Portuguese high risk populationAlmeida, V; Conceição, I; Fineza, I; Coelho, T; Silveira, F; Santos, M; Herrero Valverde, A; Geraldo, A; Maré, R; Aguiar, TC; Mendonça, C; Martins, J; Medeiros, L; Barroso, C; Vieira, JP; Moreno, T; Negrão, L; Dias, M; Lacerda, L; Evangelista, TarticlerestrictedAccess