Percorrer por autor Medeiros, A.M.

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DataTítuloAutor(es)TipoAcesso
Jun-2015Development of a Novel Targeted Panel Sequencing Assay to Identify Patients with Familial HypercholesterolemiaMedeiros, A.M.; Silva, C.; Vieira, Luís; Bourbon, M.conferenceObjectembargoedAccess
Nov-2014Dunnigan-type familial partial lipodystrophy in a large Portuguese kindredMoldovan, O.; Alves, A.C.; Medeiros, A.M.; Sousa, A.B.; Bourbon, M.conferenceObjectembargoedAccess
Mar-2015Dunnigan-type familial partial lipodystrophy in a large Portuguese KindredMoldovan, O.; Alves, A.C.; Medeiros, A.M.; Sousa, A.B.; Bourbon, MafaldaconferenceObjectembargoedAccess
Out-2011Estudo Português de Hipercolesterolemia FamiliarMedeiros, A.M.; Alves, A.C.; Francisco, V.; Bourbon, M.conferenceObjectopenAccess
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.conferenceObjectembargoedAccess
Fev-2008Familial hypercholesterolaemia in PortugalBourbon, M.; Alves, A.C.; Medeiros, A.M.; Silva, S.; Soutar, A.K.; Investigators of Portuguese FH StudyarticleopenAccess
14-Set-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.articleopenAccess
Mai-2016Functionally characterization of the most common LDLR missense alterations found in Portuguese FH patientsAlves, A.C.; Azevedo, S.; Benito-Vicente, A.; Etxebarria, A.; Barros, P.; Medeiros, A.M.; Martín, C.; Bourbon, MafaldaconferenceObjectembargoedAccess
Mai-2016Genetic Analysis of Familial Hypercholesterolemia in Iberoamerican CountriesChora, J.R.; Mata, P.; Santos, R.; Vázquez-Cárdenas, A.; Stoll, M.; Schreier, L.; Cuevas, A.; Alves, A.C.; Medeiros, A.M.; Perez Isla, L.; Jannes, C.; Pereira, A.; Dell'Oca, N.; Reyes, X.; Corral, P.; Bañares, V.; Magaña-Torres, T.; Aguilar-Salinas, C.; Alonso, R.; Bourbon, MafaldaconferenceObjectembargoedAccess
Mar-2015Genetic Diagnosis of Familial Hypercholesterolaemia: The Importance of an Integrated Analysis of Clinical, Molecular and Functional DataAlves, A.C.; Benito-Vicente, A.; Etxebarria, A.; Medeiros, A.M.; Martin, C.; Bourbon, MafaldaconferenceObjectembargoedAccess
Mai-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.articleopenAccess
Mai-2015Genetic Screening of Familial Hypercholesterolemia in PortugalMedeiros, A.M.; Alves, A.C.; Bourbon, MafaldaconferenceObjectembargoedAccess
Set-2013Genotype-phenotype correlation in Portuguese patients with Familial HypercholesterolemiaMedeiros, A.M.; Alves, A.C.; Bourbon, M.conferenceObjectrestrictedAccess
Out-2011A Hipercolesterolemia Familiar em crianças: Resultados do Estudo Português de Hipercolesterolemia FamiliarMedeiros, A.M.; Alves, A.C.; Santos, T.; Bourbon, M.conferenceObjectembargoedAccess
10-Mai-2013Hypercholesterolemia: A disease with expression from childhoodEspinheira, M.C.; Vasconcelos, C.; Medeiros, A.M.; Alves, A.C.; Bourbon, M.; Guerra, A.articlerestrictedAccess
Jun-2011Influence of APOE genotype in the phenotype of clinical diagnosed Portuguese FH patientsMedeiros, A.M.; Santos, T.; Alves, A.C.; Bourbon, M.conferenceObjectembargoedAccess
Nov-2011Influence of different type of mutations in the biochemical profile of Portuguese patients with familial hypercholesterolemiaMedeiros, A.M.; Alves, A.C.; Bourbon, M.conferenceObjectembargoedAccess
Jun-2012Inherited Dyslipidemia VS Environmental Dyslipidemia in Portuguese ChildrenMedeiros, A.M.; Alves, A.C.; Bourbon, M.conferenceObjectembargoedAccess
Jun-2012Is the clinical criteria important for patient identification in FH patients?Alves, A.C.; Medeiros, A.M.; Berguete, S.; Bourbon, M.conferenceObjectembargoedAccess
Jun-2015LDLR functional in vitro assays: a step forward for the correct genetic diagnosis of familial hypercholesterolemiaAzevedo, S.; Alves, A.C.; Medeiros, A.M.; Barros, P.; Martín, C.; Bourbon, M.conferenceObjectembargoedAccess