Browsing by Author Chora, J.R.
Showing results 1 to 6 of 6
| Issue Date | Title | Author(s) | Type | Access Type |
| 26-Oct-2017 | Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis | Chora, J.R.; Medeiros, A.M.; Alves, A.C.; Bourbon, M. | article |  |
| May-2016 | Genetic Analysis of Familial Hypercholesterolemia in Iberoamerican Countries | Chora, 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, Mafalda | conferenceObject | |
| 8-May-2017 | LDLR, APOB and PCSK9 variants associated with Familial hypercholesterolaemia application of ACMG guidelines for variant interpretation | Chora, J.R.; Medeiros, A.M.; Alves, A.C.; Bourbon, M. | conferenceObject | |
| Mar-2017 | Lysosomal acid lipase deficiency: a hidden disease among cohorts of familial hypercholesterolemia? | Chora, J.R.; Alves, A.C.; Medeiros, A.M.; Mariano, C.; Lobarinhas, G.; Guerra, A.; Mansilha, H.; Cortez-Pinto, H.; Bourbon, M. | article |  |
| Apr-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 | |
| May-2016 | Will 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, Mafalda | conferenceObject | |
