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Browsing by Author Bourbon, M.

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Issue DateTitleAuthor(s)
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.
Jun-2013Extended characterization of lipidic profile: evaluation of lipoprotein subfractionsLeitão, F.; Berguete, S.; Santos, T.; Gomes, A.; Bourbon, M.
Feb-2008Familial hypercholesterolaemia in PortugalBourbon, M.; Alves, A.C.; Medeiros, A.M.; Silva, S.; Soutar, A.K.; Investigators of Portuguese FH Study
10-Dec-2014Familial Hypercholesterolemia in PortugalBourbon, M.
May-2014Familial Hypercholesterolemia molecular characteristics in IberoamericanBourbon, M.
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.
Oct-2011Genetic basis of familial hypercholesterolaemiaAlves, A.C.; Bourbon, M.
Nov-2011Genetic basis of familial hypercholesterolaemiaAlves, A.C.; Bourbon, M.
7-Feb-2014Genetic Basis of Familial Hypercholesterolemia in PortugalBourbon, M.
May-2009Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutationsBourbon, M.; Duarte, M.A.; Alves, A.C.; Medeiros, A.M.; Marques, L.; Soutar, A.K.
Dec-2008Genetic factors and cardiovascular diseaseBourbon, M.
Sep-2013Genotype-phenotype correlation in Portuguese patients with Familial HypercholesterolemiaMedeiros, A.M.; Alves, A.C.; Bourbon, M.
Oct-2011A Hipercolesterolemia Familiar em crianças: Resultados do Estudo Português de Hipercolesterolemia FamiliarMedeiros, A.M.; Alves, A.C.; Santos, T.; Bourbon, M.
12-Aug-2013How good is controlled attenuation parameter and fatty liver index for assessing liver steatosis in general population: correlation with ultrasoundCarvalhana, S.; Leitão, J .; Alves, A.C.; Bourbon, M.; Cortez-Pinto, H.
10-May-2013Hypercholesterolemia: A disease with expression from childhoodEspinheira, M.C.; Vasconcelos, C.; Medeiros, A.M.; Alves, A.C.; Bourbon, M.; Guerra, A.
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.
Showing results 32 to 51 of 84
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