1. Repositório Científico do Instituto Nacional de Saúde

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Results 1-10 of 72 (Search time: 0.007 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
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
Mar-2015Mutational Analysis of the Portuguese Cohort with Clinical Diagnosis of Familial HypercholesterolemiaMedeiros, A.M.; Alves, A.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
14-Sep-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

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