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Browsing by Author Bourbon, M.

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Issue DateTitleAuthor(s)
Jun-2011Influence of APOE genotype in the phenotype of clinical diagnosed Portuguese FH patientsMedeiros, A.M.; Santos, T.; Alves, A.C.; Bourbon, M.
Nov-2011Influence of different type of mutations in the biochemical profile of Portuguese patients with familial hypercholesterolemiaMedeiros, A.M.; Alves, A.C.; Bourbon, M.
Nov-2011Influence of LPL, APOAIV, APOAV, APOCIII and USF1 polymorphisms in a Portuguese population with clinical diagnosis of Familial Combined HyperlipidaemiaSantos, T.; Rato, Q.; Gaspar, I.M.; Bourbon, M.
Jun-2012Inherited Dyslipidemia VS Environmental Dyslipidemia in Portuguese ChildrenMedeiros, A.M.; Alves, A.C.; Bourbon, M.
May-2012In silico versus in vitro analysis of LDLR mutationsAlves, A.C.; Silva, S.; Patel, D.; Malhó, R.; Soutar, A.K.; Bourbon, M.
10-Aug-2012In vitro functional characterization of missense mutations in the LDLR geneSilva, S.; Alves, A.C.; Patel, D.; Malhó, R.; Soutar, A.K.; Bourbon, M.
Jun-2012Is the clinical criteria important for patient identification in FH patients?Alves, A.C.; Medeiros, A.M.; Berguete, S.; Bourbon, M.
Jul-2011Lifestyle Habits and Cardiovascular Risk Factors in a Young PopulationMedeiros, A.M.; Rocha, T.M.; Francisco, V.; Alves, A.C.; Santos, T.; Louro, M.H.; Gonçalves, C.; Bourbon, M.
Oct-2012O método de cascade screening na identificação de doentes com hipercolesterolemia familiarMedeiros, A.; Leitão, F.; Alves, A.C.; Bourbon, M.
Jun-2011Milder phenotype of relatives of index patients can misdiagnose Familial HypercholesterolemiaMedeiros, A.M.; Alves, A.C.; Bourbon, M.
Jun-2010Molecular diagnosis of familial hypercholesterolemia: an important tool for cardiovascular risk stratificationAlves, A.C.; Medeiros, A.M.; Francisco, V.; Gaspar, I.M.; Rato, Q.; Bourbon, M.
Oct-2013Mutational analysis of the Portuguese cohort with clinical diagnosis of FHMedeiros, A.M.; Alves, A.C.; Bourbon, M.
Nov-2011Next-generation sequencing of LDLR and APOB genes in patients with a clinical diagnosis of Familial HypercholesterolaemiaAlves, A.C.; Bourbon, M.
Apr-2013Novas mutações funcionais no gene APOB causam hipercolesterolemia FamiliarAlves, A.C.; Extebarria, A.; Martin, C.; Bourbon, M.
Oct-2013Novel Functional APOB Mutations outside LDL-Binding Region Causing FamilialAlves, A.C.; Etxebarria, A.; Martin, C.; Bourbon, M.
28-Nov-2013Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemiaAlves, A.C.; Etxebarria, A.; Soutar, A.K.; Martin, C.; Bourbon, M.
Apr-2013Pathogenicity assessment of LDLR variant: a contribution for the correct management of Familial HypercholesterolemiaMedeiros, A.M.; Alves, A.C.; Extebarria, A.; Martin, C.; Bourbon, M.
Jun-2013Pathogenicity assessment of LDLR variants in patients with Familial HypercholesterolemiaMedeiros, A.M.; Alves, A.C.; Etxebarria, A.; Martin, C.; Bourbon, M.
Jul-2012Perfil de risco cardiovascular de estudantes do ensino secundárioRocha, T.; Alves, A.; Medeiros, A.; Francisco, V.; Silva, S.; Guiomar, S.; Paixão, E.; Gaspar, I.; Rato, Q.; Bourbon, M.
Apr-2012Portuguese experience on cascade screening of index patients with FHMedeiros, A.M.; Alves, A.C.; Leitão, F.; Bourbon, M.
Showing results 31 to 50 of 63
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