Mostrar resultados 43-62 de 64.
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| Data | Título | Autor(es) | Tipo | Acesso |
| Jun-2011 | Milder phenotype of relatives of index patients can misdiagnose Familial Hypercholesterolemia | Medeiros, A.M.; Alves, A.C.; Bourbon, M. | conferenceObject |  |
| Jun-2010 | Molecular diagnosis of familial hypercholesterolemia: an important tool for cardiovascular risk stratification | Alves, A.C.; Medeiros, A.M.; Francisco, V.; Gaspar, I.M.; Rato, Q.; Bourbon, M. | article | |
| Mar-2015 | Mutational Analysis of the Portuguese Cohort with Clinical Diagnosis of Familial Hypercholesterolemia | Medeiros, A.M.; Alves, A.C.; Bourbon, Mafalda | conferenceObject |  |
| Nov-2014 | Mutational analysis of the Portuguese cohort with clinical diagnosis of FH | Medeiros, A.M.; Alves, A.C; Bourbon, M. | conferenceObject | |
| Out-2013 | Mutational analysis of the Portuguese cohort with clinical diagnosis of FH | Medeiros, A.M.; Alves, A.C.; Bourbon, M. | conferenceObject |  |
| Mar-2015 | Novel LDLR variants in Iberoamerica: preliminary molecular results of familial hypercholesterolaemia in Iberoamerica | Azevedo, S.; Bañares, V.; Schreier, L.; Vázquez, A.; Medeiros, A.M.; Alves, A.C.; Bourbon, Mafalda | conferenceObject | |
| Abr-2013 | Pathogenicity assessment of LDLR variant: a contribution for the correct management of Familial Hypercholesterolemia | Medeiros, A.M.; Alves, A.C.; Extebarria, A.; Martin, C.; Bourbon, M. | conferenceObject | |
| Jun-2013 | Pathogenicity assessment of LDLR variants in patients with Familial Hypercholesterolemia | Medeiros, A.M.; Alves, A.C.; Etxebarria, A.; Martin, C.; Bourbon, M. | conferenceObject | |
| Mai-2012 | Portuguese experience on cascade screening of index patients with FH | Medeiros, A.M.; Alves, A.C.; Leitão, F.; Bourbon, M. | conferenceObject | |
| Abr-2012 | Portuguese experience on cascade screening of index patients with FH | Medeiros, A.M.; Alves, A.C.; Leitão, F.; Bourbon, M. | conferenceObject | |
| Out-2011 | Portuguese Familial Hypercholesterolemia Study | Medeiros, A.M.; Alves, A.C.; Francisco, V.; Bourbon, M. | conferenceObject | |
| Nov-2012 | Portuguese Familial Hypercholesterolemia Study: 13 years of results | Medeiros, A.M.; Alves, A.C.; Bourbon, M. | conferenceObject | |
| Mar-2017 | Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina | Bañares, V.G.; Corral, P.; Medeiros, A.M.; Araujo, M.B.; Lozada, A.; Bustamante, J.; Cerretini, R.; López, G.; Bourbon, M.; Schreier, L.E. | article | |
| Abr-2017 | Systematic review of LDLR mutations associated to Familial hypercholesterolaemia evidence of functional studies and application of ACMG guidelines for FH diagnosis | Chora, J.R.; Alves, A.C.; Medeiros, A.M.; Bourbon, M. | conferenceObject | |
| Out-2017 | The FH phenotype: monogenic familial hypercholesterolaemia, polygenic dyslipidaemia and other causes | Mariano, C.; Antunes, M.; Medeiros, A.M.; Alves, A.C.; Futema, M.; Humphries, S.E.; Bourbon, Mafalda | conferenceObject | |
| Jun-2012 | The impact of cascade screening in familial hypercholesterolemia diagnosis | Gomes, A.; Medeiros, A.M.; Leitão, F.; Alves, A.C.; Bourbon, M. | conferenceObject | |
| 5-Mar-2015 | The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia | Benito-Vicente, A.; Alves, A.C; Etxebarria, A.; Medeiros, A.M.; Martin, C.; Bourbon, M. | article | |
| Mai-2018 | The importance to track variants in genes causing recessive disorders within the family: a FH/sitosterolemia clinical case | Graça, R.; Abrantes, L.B.; Rossi, N.; Alves, A.C.; Medeiros, A.M.; Zimon, M.; Rausch, T.; Benes, V.; Pepperkok, R.; Bourbon, M. | conferenceObject | |
| Mai-2012 | To have or not to have familial hypercholesterolaemia, that is the question: genetic and different clinical criteria | Alves, A.C.; Medeiros, A.M.; Berguete, S.; Bourbon, M. | conferenceObject | |
| Out-2010 | Update of the Portuguese Familial Hypercholesterolaemia Study | Medeiros, A.M.; Alves, A.C.; Francisco, V.; Bourbon, M.; Investigators of the Portuguese FH Study | article | |
