Percorrer por autor Medeiros, A.M.

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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
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
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
Mar-2017Preliminary spectrum of genetic variants in familial hypercholesterolemia in ArgentinaBañares, V.G.; Corral, P.; Medeiros, A.M.; Araujo, M.B.; Lozada, A.; Bustamante, J.; Cerretini, R.; López, G.; Bourbon, M.; Schreier, L.E.articleembargoedAccess
Abr-2017Systematic review of LDLR mutations associated to Familial hypercholesterolaemia evidence of functional studies and application of ACMG guidelines for FH diagnosisChora, J.R.; Alves, A.C.; Medeiros, A.M.; Bourbon, M.conferenceObjectembargoedAccess
Out-2017The FH phenotype: monogenic familial hypercholesterolaemia, polygenic dyslipidaemia and other causesMariano, C.; Antunes, M.; Medeiros, A.M.; Alves, A.C.; Futema, M.; Humphries, S.E.; Bourbon, MafaldaconferenceObjectembargoedAccess
Jun-2012The impact of cascade screening in familial hypercholesterolemia diagnosisGomes, A.; Medeiros, A.M.; Leitão, F.; Alves, A.C.; Bourbon, M.conferenceObjectopenAccess
5-Mar-2015The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemiaBenito-Vicente, A.; Alves, A.C; Etxebarria, A.; Medeiros, A.M.; Martin, C.; Bourbon, M.articleembargoedAccess
Mai-2018The importance to track variants in genes causing recessive disorders within the family: a FH/sitosterolemia clinical caseGraça, R.; Abrantes, L.B.; Rossi, N.; Alves, A.C.; Medeiros, A.M.; Zimon, M.; Rausch, T.; Benes, V.; Pepperkok, R.; Bourbon, M.conferenceObjectembargoedAccess
Mai-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.conferenceObjectembargoedAccess
Out-2010Update of the Portuguese Familial Hypercholesterolaemia StudyMedeiros, A.M.; Alves, A.C.; Francisco, V.; Bourbon, M.; Investigators of the Portuguese FH StudyarticleopenAccess
Mai-2016Using percentiles to diagnose familial hypercholesterolemia in PortugalPereira, A.; Alves, A.C.; Medeiros, A.M.; Mariano, Cibelle; Bourbon, MafaldaconferenceObjectembargoedAccess
Mai-2016Will Familial Hypercholesterolaemia Cohorts Hide Many More Lisosomal Acid Lipase Deficiency Patients?Chora, J.R.; Alves, A.C.; Medeiros, A.M.; Mariano, C.; Lobarinhas, G.; Guerra, A.; Mansilha, H.; Bourbon, MafaldaconferenceObjectembargoedAccess