1. Repositório do Centro Hospitalar Universitário de Lisboa Central, EPE

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Issue DateTitleAuthor(s)TypeAccess Type
2015Variant Rett Syndrome in a Girl with a Pericentric X-Chromosome Inversion Leading to Epigenetic Changes and Overexpression of the MECP2 GeneVieira, JP; Lopes, F; Silva-Fernandes, A; Sousa, MV; Moura, S; Sousa, S; Costa, BM; Barbosa, M; Ylstra, B; Temudo, T; Lourenço, T; Maciel, ParticleopenAccess
2011Rett Syndrome With and Without Detected MECP2 Mutations: an Attempt to Redefine PhenotypesTemudo, T; Santos, M; Ramos, E; Dias, K; Vieira, JP; Moreira, A; Calado, E; Carrilho, I; Oliveira, G; Levy, A; Barbot, C; Fonseca, M; Cabral, A; Cabral, P; Monteiro, J; Borges, L; Gomes, R; Mira, G; Pereira, SA; Santos, M; Fernandes, A; Epplen, JT; Sequeiros, J; Maciel, ParticleopenAccess
2008Analysis of Highly Conserved Regions of the 3'UTR of MECP2 Gene in Patients with Clinical Diagnosis of Rett Syndrome and Other Disorders Associated with Mental RetardationSantos, M; Yan, J; Temudo, T; Oliveira, G; Vieira, JP; Fen, J; Sommer, S; Maciel, ParticleopenAccess
2009Evaluation of CSF Neurotransmitters and Folate in 25 Patients with Rett Disorder and Effects of TreatmentTemudo, T; Rios, M; Prior, C; Carrilho, I; Santos, M; Maciel, P; Sequeiros, J; Fonseca, M; Monteiro, J; Cabral, P; Vieira, JP; Ormazabal, A; Artuch, RarticleopenAccess
2011Síndrome de Guillain-Barré em Idade Pediátrica. Protocolo de ActuaçãoSampaio, MJ; Figueiroa, S; Temudo, T; Gomes, S; Janeiro, P; Silva, RarticleopenAccess
2010Cerebral Sinovenous Thrombosis in Children: Clinical Presentation and Extension, Localization and Recanalization of ThrombosisVieira, JP; Luis, C; Monteiro, JP; Temudo, T; Campos, MM; Quintas, S; Nunes, SarticleopenAccess
2006Doenças Neuromusculares na Idade Pediátrica em Portugal - Estudo PreliminarSantos, MA; Fineza, I; Moreno, T; Cabral, P; Ferreira, JC; Lopes Silva, R; Vieira, JP; Moreira, A; Dias, AI; Calado, E; Monteiro, JP; Fonseca, MJ; Moço, C; Furtado, F; Campos, MM; Gonçallves, O; Gomes, R; Barbosa, C; Figueiroa, S; Temudo, T; Fagundes, FarticleopenAccess
Jan-2009Mutations in the MECP2 Gene Are Not a Major Cause of Rett Syndrome-Like or Related Neurodevelopmental Phenotype in Male PatientsSantos, M; Temudo, T; Kay, T; Carrilho, I; Medeira, A; Cabral, H; Gomes, R; Lourenço, T; Venâncio, M; Calado, E; Moreira, A; Oliveira, G; Maciel, ParticleopenAccess

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