Percorrer por autor Bourbon, M.

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DataTítuloAutor(es)TipoAcesso
Nov-2011Next-generation sequencing of LDLR and APOB genes in patients with a clinical diagnosis of Familial HypercholesterolaemiaAlves, A.C.; Bourbon, M.conferenceObjectembargoedAccess
Abr-2013Novas mutações funcionais no gene APOB causam hipercolesterolemia FamiliarAlves, A.C.; Extebarria, A.; Martin, C.; Bourbon, M.conferenceObjectembargoedAccess
Out-2013Novel Functional APOB Mutations outside LDL-Binding Region Causing FamilialAlves, A.C.; Etxebarria, A.; Martin, C.; Bourbon, M.conferenceObjectrestrictedAccess
Abr-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.conferenceObjectopenAccess
Jun-2013Pathogenicity assessment of LDLR variants in patients with Familial HypercholesterolemiaMedeiros, A.M.; Alves, A.C.; Etxebarria, A.; Martin, C.; Bourbon, M.conferenceObjectembargoedAccess
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.articleopenAccess
Mai-2012Portuguese experience on cascade screening of index patients with FHMedeiros, A.M.; Alves, A.C.; Leitão, F.; Bourbon, M.conferenceObjectopenAccess
Abr-2012Portuguese experience on cascade screening of index patients with FHMedeiros, A.M.; Alves, A.C.; Leitão, F.; Bourbon, M.conferenceObjectopenAccess
18-Out-2014Portuguese Familial Hypercholesterolemia StudyBourbon, M.conferenceObjectembargoedAccess
Out-2011Portuguese Familial Hypercholesterolemia StudyMedeiros, A.M.; Alves, A.C.; Francisco, V.; Bourbon, M.conferenceObjectopenAccess
Nov-2012Portuguese Familial Hypercholesterolemia Study: 13 years of resultsMedeiros, A.M.; Alves, A.C.; Bourbon, M.conferenceObjectembargoedAccess
5-Jul-2014Portuguese Familial Hypercholesterolemia Study: 15 yearsBourbon, M.lectureembargoedAccess
6-Nov-2006Portuguese Familial Hypercholesterolemia Study: presentation of the study and preliminary resultsBourbon, M.; Rato, Q.; Investigadores do Estudo Português de Hipercolesterolemia FamiliararticleopenAccess
Set-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.articleopenAccess
Jun-2013Protein networks related to familial hypercholesterolemia geneAlves, A.C.; Bourbon, M.conferenceObjectembargoedAccess
28-Fev-2007A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicingBourbon, M.; Sun, X.M.; Soutar, A.K.articleopenAccess
Mai-2012Relation between triglycerides associated polymorphisms and lipid profile in Familial Combined HyperlipidaemiaSantos, T.; Rato, Q.; Gaspar, I.M.; Bourbon, M.conferenceObjectembargoedAccess
Set-2016Semiology versus laboratory approaches: comparison between interarm blood preassure differences and APOB/APOA ratioFrutuoso, J.; Silva, P.; Oliveira, J.; Bourbon, M.conferenceObjectembargoedAccess
8-Dez-2015Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicityFernández-Higuero, J.A.; Etxebarria, A.; Benito-Vicente, A.; Alves, A.C.; Arrondo, J.L.; Ostolaza, H.; Bourbon, M.; Martin, C.articleopenAccess
Jun-2012The impact of cascade screening in familial hypercholesterolemia diagnosisGomes, A.; Medeiros, A.M.; Leitão, F.; Alves, A.C.; Bourbon, M.conferenceObjectopenAccess