| Issue Date | Title | Author(s) | Type | Access Type |
| May-2014 | Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment | Benito-Vicente, A.; Etxebarria, A.; Alves, A.C.; Bourbon, M.; Martin, C. | conferenceObject |  |
| 11-Nov-2014 | Advantages and Versatility of Fluorescence-Based Methodology to Characterize the Functionality of LDLR and Class Mutation Assignment | Etxebarria, A.; Benito-Vicente, A.; Alves, A.C.; Ostolaza, H.; Bourbon, M.; Martin, C. | article |  |
| May-2014 | Differences in secondary structure of p.Arg1164Thr and p.Gln4494del, two novel ApoB-100 mutants | Etxebarria, A.; Fernández-Higuero, J.A.; Benito-Vicente, A.; Alves, A.C.; Bourbon, M.; Ostolaza, H.; Martin, C. | conferenceObject | |
| Nov-2017 | Functional characterization of 2 news variants in the APOB gene | Alves, A.C.; Medeiros, A.M.; Etxebarria, A.; Benito-Vicente, A.; Martin, C.; Bourbon, Mafalda | conferenceObject | |
| May-2016 | Functionally characterization of the most common LDLR missense alterations found in Portuguese FH patients | Alves, A.C.; Azevedo, S.; Benito-Vicente, A.; Etxebarria, A.; Barros, P.; Medeiros, A.M.; Martín, C.; Bourbon, Mafalda | conferenceObject | |
| Oct-2017 | Functionally characterization of the most common LDLR missense alterations found in Portuguese FH patients | Alves, A.C.; Azevedo, S.; Benito-Vicente, A.; Etxebarria, A.; Barros, P.; Medeiros, A.M.; Martín, C.; Bourbon, Mafalda | conferenceObject | |
| Mar-2015 | Further evidence of novel APOB mutations as a cause of Familial Hypercholesterolemia | Alves, A.C.; Etxebarria, A; Benito-Vicente, A.; Martin, C.; Bourbon, Mafalda | conferenceObject | |
| Mar-2015 | Genetic Diagnosis of Familial Hypercholesterolaemia: The Importance of an Integrated Analysis of Clinical, Molecular and Functional Data | Alves, A.C.; Benito-Vicente, A.; Etxebarria, A.; Medeiros, A.M.; Martin, C.; Bourbon, Mafalda | conferenceObject | |
| 8-Dec-2015 | Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity | Fernández-Higuero, J.A.; Etxebarria, A.; Benito-Vicente, A.; Alves, A.C.; Arrondo, J.L.; Ostolaza, H.; Bourbon, M.; Martin, C. | article | |
| 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 | |
