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Resultados 1-10 de 64.
Registos:
DataTítuloAutor(es)TipoAcesso
Mar-2015Genetic Diagnosis of Familial Hypercholesterolaemia: The Importance of an Integrated Analysis of Clinical, Molecular and Functional DataAlves, A.C.; Benito-Vicente, A.; Etxebarria, A.; Medeiros, A.M.; Martin, C.; Bourbon, MafaldaconferenceObjectembargoedAccess
Mai-2015Genetic Screening of Familial Hypercholesterolemia in PortugalMedeiros, A.M.; Alves, A.C.; Bourbon, MafaldaconferenceObjectembargoedAccess
Mar-2015Mutational Analysis of the Portuguese Cohort with Clinical Diagnosis of Familial HypercholesterolemiaMedeiros, A.M.; Alves, A.C.; Bourbon, MafaldaconferenceObjectembargoedAccess
Mai-2009Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutationsBourbon, M.; Duarte, M.A.; Alves, A.C.; Medeiros, A.M.; Marques, L.; Soutar, A.K.articleopenAccess
Out-2010Update of the Portuguese Familial Hypercholesterolaemia StudyMedeiros, A.M.; Alves, A.C.; Francisco, V.; Bourbon, M.; Investigators of the Portuguese FH StudyarticleopenAccess
Jun-2013Pathogenicity assessment of LDLR variants in patients with Familial HypercholesterolemiaMedeiros, A.M.; Alves, A.C.; Etxebarria, A.; Martin, C.; Bourbon, M.conferenceObjectembargoedAccess
10-Mai-2013Hypercholesterolemia: A disease with expression from childhoodEspinheira, M.C.; Vasconcelos, C.; Medeiros, A.M.; Alves, A.C.; Bourbon, M.; Guerra, A.articlerestrictedAccess
14-Set-2014Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal)Cymbron, T.; Mendes, P.; Ramos, A.; Raposo, M.; Kazachkova, N.; Medeiros, A.M.; Bruges-Armas, J.; Bourbon, M.; Lima, M.articleopenAccess
Mai-2012Portuguese experience on cascade screening of index patients with FHMedeiros, A.M.; Alves, A.C.; Leitão, F.; Bourbon, M.conferenceObjectopenAccess
Abr-2012Portuguese experience on cascade screening of index patients with FHMedeiros, A.M.; Alves, A.C.; Leitão, F.; Bourbon, M.conferenceObjectopenAccess