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| Issue Date | Title | Author(s) | Type | Access Type |
| May-2018 | Adaptation of ACMG/AMP guidelines for variant interpretation in familial hypercholesterolemia – a ClinGen FH Expert Panel pilot study | Chora, Joana; A. Iacocca, Michael; Lisa Kurtz, C; Carrie, Alain; Tichy, Lukas; E. Leigh, Sarah; T. DiStefano, Marina; Defesche, Joep; J. Sijbrands, Eric; Freiberger, Tomas; A. Hegele, Robert; W. Knowles, Joshua; Bourbon, Mafalda | conferenceObject |  |
| May-2018 | Adapting the early life exposure assessment tool (ELEAT) to Portugal: a pilot study to tackle gene-environment interactions in autism spectrum disorder | Rasga, C.; Santos, J.; Lopes, A.L.; Marques, A.R.; Vilela, J.; Asif, M.; Walker, C.K.; Schmidt, R.J.; Vicente, A.M. | conferenceObject |  |
| 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 |  |
| 27-May-2017 | Alpha-thalassemia due to novel deletions and complex rearrangements in the subtelomeric region of chromosome 16p | Ferrão, José; Silva, Marisa; Gonçalves, Lúcia; Gomes, Susana; Loureiro, Pedro; Coelho, Andreia; Miranda, Armandina; Seuanes, Filomena; Batalha Reis, Ana; Valtonen-André, Camila; Sonesson, Annika; Pina, Francisca; Maia, Raquel; Kjollerstrom, Paula; Monteiro, Estela; F. Lacerda, João; Lavinha, João; Gonçalves, João; Faustino, Paula | conferenceObject |  |
| 14-Nov-2017 | An integrative system biology approach to delineate complex genotype-phenotype associations in Autism Spectrum Disorder | Asif, M.; Martiniano, Hugo F.; Rasga, Célia; Marques, Ana R.; Santos, João X.; Couto, Francisco M.; Vicente, Astrid M. | conferenceObject |  |
| May-2012 | Analysis of Genetic Markers for Cardiovascular Disorders in a Portuguese Population with Familial Hypercholesterolaemia | Gomes, A.; Santos, T.; Costa, L.; Bourbon, M. | conferenceObject |  |
| Oct-2017 | Anti-cancer potential of Fasciola hepatica extracts | Ferreira, S.; Fernandes, R.; Alves, H.; Richter, J.; Botelho, M.C. | conferenceObject |  |
| Jun-2014 | ANXA11 association with Sarcoidosis susceptibility: a meta-analysis of non-family-based studies | Lima, Bruno A.; Morais, António; Alves, Helena | conferenceObject |  |
| Mar-2015 | APOB/APOA-I ratio and major cardiovascular risk factors in azores and Lisbon populations – a comparison study | Ferin, Rita; Lima, Ana; Baptista, José; Alves, Ana Catarina; Bourbon, Mafalda; Pavão, Maria Leonor | conferenceObject |  |
| May-2014 | ApoB/ApoA1 ratio improves clinical criteria sensitivity for the identification of FH children | Medeiros, A.M.; Alves, A.C.; Aguiar, P.; Bourbon, M. | conferenceObject |  |
| Jun-2013 | APOB: old gene, new perspective for Familial Hypercholesterolaemia | Alves, A.C.; Etxebarria, A.; Martin, C.; Bourbon, M. | conferenceObject |  |
| Apr-2017 | Applicability of the low-density lipoprotein cholesterol gene score in a south European population | Mariano, C.; Futema, M.; Humphries, S.E.; Bourbon, M. | conferenceObject |  |
| May-2013 | Applying virtual crossmatch approach in portuguese kidney transplants | Lima, Bruno A.; Mendes, Miguel; Alves, Helena | conferenceObject |  |
| Apr-2012 | Are There Differences in the Type of High-sodium Food Groups and Level of Consumption among African Migrant and Native Hypertensive Medicated Patients, Followed at Primary Care Level in Lisbon? | Pinto, A.; Violeta, A.; Almeida, A.; Cardoso, I.; Fernandes, M.; Guerra, F.; Guiomar, S.; Nicola, P.; Rocha, E. | conferenceObject |  |
| May-2017 | ASD prevalence study across Europe: developing a school-based screening approach in the ASDEU project | García Primo, P.; Schendel, D.; Partner, E.; Rasga, C.; Café, C.; Rogé, B.; Arnaud, C.; Saemundsen, E.; Muratori, F.; Narzisi, A.; Boilson, A.; Oliveira, G.; Fuentes, J.; Poustka, L.; Scattonni, M.L.; Gissler, M.; Sweeny, M.R.; Budisteanu, M.; Kawa, R.; Canal-Bedia, R.; Stefanov, R.; Van Bakel, M.E.; Vicente, A.M.; Posada, M. | conferenceObject |  |
| May-2018 | Assessment of a Portuguese panel reactive antibody calculator | Lima, Bruno A.; Alves, Helena | conferenceObject |  |
| May-2015 | Association Between BMI and Blood Lipids in a Portuguese Population – an Analysis of the e_COR Study | Siopa, Margarida; Alves, Catarina; Rato, Quitéria; Aguiar, Pedro; Bourbon, Mafalda | conferenceObject |  |
| Jun-2015 | Avaliação dos Resultados do PNAEQ na Quantificação da HbA2 | Vilhena, Filipa; Correia, Helena; Cardoso, Ana; Seuanes, Filomena; Copeto, Sandra; Costa, Sandra; Miranda, Armandina; Faria, Ana Paula | conferenceObject |  |
| Jun-2014 | Avaliação Externa da Qualidade no âmbito da Hematologia: experiência PNAEQ | Faria, Ana; Correia, Helena; Cardoso, Ana; Brito, Cristina; Barreira, Rui; Reis, Ana; Miranda, Ana; Miranda, Armandina | conferenceObject |  |
| Sep-2016 | Benefits of targeting each risk factor for cardiovascular death | Frutuoso, J.; Portugal, G.; Oliveira, J .; Bourbon, M. | conferenceObject |  |