1. Repositório Científico do Instituto Nacional de Saúde

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Issue DateTitleAuthor(s)TypeAccess Type
Feb-2015The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studiesFerreira, S.; Ortiz, A.; Germain, D.P.; Viana-Baptista, M.; Caldeira-Gomes, A.; Camprecios, M.; Fenollar-Cortés., M; Gallegos-Villalobos, Á.; Garcia, D.; García-Robles, J.A.; Egido, J.; Gutiérrez-Rivas, E.; Herrero, J.A.; Mas, S.; Oancea, R.; Péres, P.; Salazar-Martín, L.M.; Solera-Garcia, J.; Alves, H.; Garman, S.C.; Oliveira, J.P.articleopenAccess
May-2015Genetic Screening of Familial Hypercholesterolemia in PortugalMedeiros, A.M.; Alves, A.C.; Bourbon, MafaldaconferenceObjectembargoedAccess
11-Dec-2014System medicine approach to improve diagnosis and prognosis in Autism Spectrum Disorders (ASD), based on extensive genomic, biochemical and clinical dataAsif, M.; Couto, F.; Vicente, A.M.lecturerestrictedAccess
5-Feb-2015Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorderMaier, R.; Moser, G.; Chen, G.B.; Ripke, S; Cross-Disorder Working Group of the Psychiatric Genomics Consortium; Coryell, W.; Potash, J.B.; Scheftner, W.A.; Shi, J.; Weissman, M.M.; Hultman, C.M.; Landén, M.; Levinson, D.F.; Kendler, K.S.; Smoller, J.W.; Wray, N.R.; Lee, S.H.articleopenAccess
Mar-2015European joint action sobre prevenção de doenças crónicas e promoção do envelhecimento saudável (JA-CHRODIS)Miranda, Natércia; Niza, Cláudia; Costa, Luciana; Vicente, A.M.articleopenAccess
Mar-2015Characterization of the Dyslipidaemia profile in PortugalCibelle, M.; Alves, A.C.; Bourbon, MafaldaconferenceObjectembargoedAccess
5-Mar-2015Iron homeostasis in immune mononuclear cells: a potential role in atherogenesisMarques, Liliana Alves da SilvadoctoralThesisembargoedAccess
Apr-2015Interleukine-6 promoter polymorphism -174g/C association with chronic nephropathy of the graft: a meta-analysisLima, Bruno; Mendes, Miguel; Alves, HelenaconferenceObjectopenAccess
5-Mar-2015The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemiaBenito-Vicente, A.; Alves, A.C; Etxebarria, A.; Medeiros, A.M.; Martin, C.; Bourbon, M.articleembargoedAccess
Jun-2015Development of a Novel Targeted Panel Sequencing Assay to Identify Patients with Familial HypercholesterolemiaMedeiros, A.M.; Silva, C.; Vieira, Luís; Bourbon, M.conferenceObjectembargoedAccess

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