1. Repositório Científico do Instituto Nacional de Saúde

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Results 1-10 of 126 (Search time: 0.008 seconds).
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Issue DateTitleAuthor(s)TypeAccess Type
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
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
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
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
10-Dec-2014Familial Hypercholesterolemia in PortugalBourbon, M.lectureembargoedAccess
May-2014Differences in secondary structure of p.Arg1164Thr and p.Gln4494del, two novel ApoB-100 mutantsEtxebarria, A.; Fernández-Higuero, J.A.; Benito-Vicente, A.; Alves, A.C.; Bourbon, M.; Ostolaza, H.; Martin, C.conferenceObjectembargoedAccess
May-2016Immune cell changes in response to a swimming training session during a 24-h recovery periodMorgado, J.P.; Monteiro, C.P.; Teles, J.; Reis, J.F.; Matias, C.; Seixas, M.T.; Alvim, M.G.; Bourbon, M.; Laires, M.J.; Alves, F.articleembargoedAccess
18-Oct-2014Portuguese Familial Hypercholesterolemia StudyBourbon, M.conferenceObjectembargoedAccess
May-2014Familial Hypercholesterolemia molecular characteristics in IberoamericanBourbon, M.conferenceObjectembargoedAccess

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