1. Repositório Científico do Instituto Nacional de Saúde

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Results 1-10 of 99 (Search time: 0.005 seconds).
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Issue DateTitleAuthor(s)TypeAccess Type
May-2015Genetic Screening of Familial Hypercholesterolemia in PortugalMedeiros, A.M.; Alves, A.C.; Bourbon, MafaldaconferenceObjectembargoedAccess
Mar-2015Characterization of the Dyslipidaemia profile in PortugalCibelle, 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
Mar-2015Further evidence of novel APOB mutations as a cause of Familial HypercholesterolemiaAlves, A.C.; Etxebarria, A; Benito-Vicente, A.; Martin, C.; Bourbon, MafaldaconferenceObjectembargoedAccess
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
Jun-2015Exome sequencing reveals novel functional mutations in APOB causing Familial HypercholesterolaemiaAlves, A.C.; Medeiros, A.M.; Etxebarria, A.C.; Benito-Vicente, A.B.; Martin, C.; Bourbon, M.conferenceObjectembargoedAccess
Mar-2015Novel LDLR variants in Iberoamerica: preliminary molecular results of familial hypercholesterolaemia in IberoamericaAzevedo, S.; Bañares, V.; Schreier, L.; Vázquez, A.; Medeiros, A.M.; Alves, A.C.; Bourbon, MafaldaconferenceObjectembargoedAccess
Jun-2015LDLR functional in vitro assays: a step forward for the correct genetic diagnosis of familial hypercholesterolemiaAzevedo, S.; Alves, A.C.; Medeiros, A.M.; Barros, P.; Martín, C.; Bourbon, M.conferenceObjectembargoedAccess
Mar-2015Dunnigan-type familial partial lipodystrophy in a large Portuguese KindredMoldovan, O.; Alves, A.C.; Medeiros, A.M.; Sousa, A.B.; Bourbon, MafaldaconferenceObjectembargoedAccess
Nov-2015Composición genética de la Hipercolesterolemia Familiar en Argentina en relación a los países de la Red Iberoamericana de HFBañares, V.G.; Alves, A.C.; Alonso, R.; Jannes, C.E.; Medeiros, A.M.; Corral, P.; DellOca, N.; Araujo, M.B.; Pereira, A.; Elikir, G.D.; Reyes, X.; Cuevas, A.; Vázquez Cárdenas, A.; Stoll, M.; Santos, R.; Mata, P.; Schreier, L.; Bourbon, MafaldaconferenceObjectembargoedAccess

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