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Browsing by Author Bourbon, M.

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Issue DateTitleAuthor(s)
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.
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.
May-2012Portuguese experience on cascade screening of index patients with FHMedeiros, A.M.; Alves, A.C.; Leitão, F.; Bourbon, M.
Oct-2011Portuguese Familial Hypercholesterolemia StudyMedeiros, A.M.; Alves, A.C.; Francisco, V.; Bourbon, M.
Nov-2012Portuguese Familial Hypercholesterolemia Study: 13 years of resultsMedeiros, A.M.; Alves, A.C.; Bourbon, M.
6-Nov-2006Portuguese Familial Hypercholesterolemia Study: presentation of the study and preliminary resultsBourbon, M.; Rato, Q.; Investigadores do Estudo Português de Hipercolesterolemia Familiar
Sep-2008Portuguese study of familial dilated cardiomyopathy: the FATIMA studyMartins, E.; Silva-Cardoso, J.; Bicho, M.; Bourbon, M.; Ceia, F.; Rebocho, M.J.; Moura, B.; Fonseca, C.; Correia, M.J.; Brito, D.; Perdigão, C.; Madeira, H.; Abreu-Lima, C.
Jun-2013Protein networks related to familial hypercholesterolemia geneAlves, A.C.; Bourbon, M.
28-Feb-2007A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicingBourbon, M.; Sun, X.M.; Soutar, A.K.
May-2012Relation between triglycerides associated polymorphisms and lipid profile in Familial Combined HyperlipidaemiaSantos, T.; Rato, Q.; Gaspar, I.M.; Bourbon, M.
Jun-2012The impact of cascade screening in familial hypercholesterolemia diagnosisGomes, A.; Medeiros, A.M.; Leitão, F.; Alves, A.C.; Bourbon, M.
May-2012To have or not to have familial hypercholesterolaemia, that is the question: genetic and different clinical criteriaAlves, A.C.; Medeiros, A.M.; Berguete, S.; Bourbon, M.
Jun-2011Update of the biochemical and molecular results of Portuguese patients with Familial Combined HyperlipidaemiaSantos, T.; Rato, Q.; Gaspar, I.M.; Rico, M.T.; Silva, J.M.; Bourbon, M.
Oct-2010Update of the Portuguese Familial Hypercholesterolaemia StudyMedeiros, A.M.; Alves, A.C.; Francisco, V.; Bourbon, M.; Investigators of the Portuguese FH Study
Jun-2012Whole-exome sequencing in patients with clinical diagnosis of Familial HypercholesterolaemiaAlves, A.C.; Bourbon, M.
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