Percorrer por autor Bourbon, Mafalda

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DataTítuloAutor(es)TipoAcesso
16-Jan-2015Identifcation and characterization of the cause of lipid metabolism disruption in patients with severe and unexplained familial dyslipidaemiaRossi, Niccolò; Bourbon, MafaldaconferenceObjectembargoedAccess
Jul-2016Identification of novel biomarkers to distinguish polygenic and monogenic dyslipidemia system biology approachCorreia, Marta; Gama-Carvalho, Margarida; Bourbon, MafaldaconferenceObjectembargoedAccess
Mai-2014In silico classification of LDLR variants leads to misdiagnosis of FH patients – validation of a novel criteriaAlves, Ana Catarina; Medeiros, Ana Margarida; Bourbon, MafaldaconferenceObjectembargoedAccess
Abr-2012Influence 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, MafaldaconferenceObjectrestrictedAccess
Set-2012Lanches saudáveis para a sua criançaCâmara, Gisele; Goes, Ana Rita; Bourbon, Mafalda; Nunes, Luís; Bragança, Graciete; Cargaleiro, Helena; Heitor, Maria João; Rito, Ana Isabel; Maia, Maria Teresa; Do Ó, Dulce; Gomes, José Carlos; Sardinha, Luís; Loureiro, IsabelotheropenAccess
Nov-2015Lisosomal Acid Lipase Deficiency, an unrecognized cause of dyslipidaemia: 1st national resultsBourbon, MafaldaconferenceObjectembargoedAccess
Out-2015Lisosomal Acid Lipase Deficiency: an unrecognized cause of dyslipidaemia and liver disordersBourbon, MafaldaconferenceObjectclosedAccess
Mai-2016Looks Like FH But it’s not FH: Extended Lipid Profile of Paediatric Clinical FH Patients Reveals a Different Lipid Profile in FH Negative PatientsMedeiros, A.M.; Aguiar, P.; Bourbon, MafaldaconferenceObjectembargoedAccess
Set-2012O meu dia-a-dia com a Roda dos Alimentos na gravidezCâmara, Gisele; Goes, Ana Rita; Bourbon, Mafalda; Nunes, Luís; Bragança, Graciete; Cargaleiro, Helena; Heitor, Maria João; Rito, Ana Isabel; Maia, Maria Teresa; Do Ó, Dulce; Gomes, José Carlos; Sardinha, Luís; Loureiro, IsabelotheropenAccess
Set-2012Minerais: para que servem e quais as principais fontesCâmara, Gisele; Goes, Ana Rita; Bourbon, Mafalda; Nunes, Luís; Bragança, Graciete; Cargaleiro, Helena; Heitor, Maria João; Rito, Ana Isabel; Maia, Maria Teresa; Do Ó, Dulce; Gomes, José Carlos; Sardinha, Luís; Loureiro, IsabelotheropenAccess
Mar-2014Mutação do Hnf1ß (Mody 5) - Estudo de uma família portuguesaAgapito, Ana; Ferreira, Aníbal; Nolasco, Fernando; Gaspar, Gisela; Bourbon, MafaldaconferenceObjectopenAccess
28-Mai-2015Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvementMedeiros, Ana Margarida; Alves, Ana Catarina; Bourbon, MafaldaarticleembargoedAccess
Mar-2015Mutational Analysis of the Portuguese Cohort with Clinical Diagnosis of Familial HypercholesterolemiaMedeiros, A.M.; Alves, A.C.; Bourbon, MafaldaconferenceObjectembargoedAccess
Mai-2016Network Analyis Approach to Find New Candidate Genes and Pathways Involved in the Pathophysiology of Familial HypercholesterolemiaRossi, N.; Enguita, F.J.; Bourbon, MafaldaconferenceObjectembargoedAccess
Jul-2016Network analysis approach to find new candidate genes and pathways involved in the pathophysiology of familial hypercholesterolemiaRossi, Niccolò; Bourbon, MafaldaconferenceObjectembargoedAccess
Out-2014“Normal” controlled attenuation parameter (CAP) values: a population-based study of healthy subjectsCarvalhana, Sofia; Leitão, Jorge; Alves, Catarina; Bourbon, Mafalda; Cortez-Pinto, HelenaconferenceObjectrestrictedAccess
Mai-2014Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemiaAlves, Ana Catarina; Etxebarria, Aitor; Soutar, Anne Katherine; Martin, Cesar; Bourbon, MafaldaconferenceObjectembargoedAccess
13-Nov-2013Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemiaAlves, Ana Catarina; Etxebarria, Aitor; Soutar, Anne Katherine; Martin, Cesar; Bourbon, MafaldaarticleembargoedAccess
Jan-2014Novel genes causing familial hypercholesterolaemiaBourbon, MafaldareportembargoedAccess
Mar-2015Novel LDLR variants in Iberoamerica: preliminary molecular results of familial hypercholesterolaemia in IberoamericaAzevedo, S.; Bañares, V.; Schreier, L.; Vázquez, A.; Medeiros, A.M.; Alves, A.C.; Bourbon, MafaldaconferenceObjectembargoedAccess