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Issue DateTitleAuthor(s)TypeAccess Type
May-2018Adaptation of ACMG/AMP guidelines for variant interpretation in familial hypercholesterolemia – a ClinGen FH Expert Panel pilot studyChora, 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, MafaldaconferenceObjectembargoedAccess
May-2018Adapting the early life exposure assessment tool (ELEAT) to Portugal: a pilot study to tackle gene-environment interactions in autism spectrum disorderRasga, C.; Santos, J.; Lopes, A.L.; Marques, A.R.; Vilela, J.; Asif, M.; Walker, C.K.; Schmidt, R.J.; Vicente, A.M.conferenceObjectembargoedAccess
May-2014Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignmentBenito-Vicente, A.; Etxebarria, A.; Alves, A.C.; Bourbon, M.; Martin, C.conferenceObjectembargoedAccess
27-May-2017Alpha-thalassemia due to novel deletions and complex rearrangements in the subtelomeric region of chromosome 16pFerrão, 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, PaulaconferenceObjectopenAccess
14-Nov-2017An integrative system biology approach to delineate complex genotype-phenotype associations in Autism Spectrum DisorderAsif, M.; Martiniano, Hugo F.; Rasga, Célia; Marques, Ana R.; Santos, João X.; Couto, Francisco M.; Vicente, Astrid M.conferenceObjectembargoedAccess
May-2012Analysis of Genetic Markers for Cardiovascular Disorders in a Portuguese Population with Familial HypercholesterolaemiaGomes, A.; Santos, T.; Costa, L.; Bourbon, M.conferenceObjectopenAccess
Oct-2017Anti-cancer potential of Fasciola hepatica extractsFerreira, S.; Fernandes, R.; Alves, H.; Richter, J.; Botelho, M.C.conferenceObjectopenAccess
Jun-2014ANXA11 association with Sarcoidosis susceptibility: a meta-analysis of non-family-based studiesLima, Bruno A.; Morais, António; Alves, HelenaconferenceObjectopenAccess
Mar-2015APOB/APOA-I ratio and major cardiovascular risk factors in azores and Lisbon populations – a comparison studyFerin, Rita; Lima, Ana; Baptista, José; Alves, Ana Catarina; Bourbon, Mafalda; Pavão, Maria LeonorconferenceObjectembargoedAccess
May-2014ApoB/ApoA1 ratio improves clinical criteria sensitivity for the identification of FH childrenMedeiros, A.M.; Alves, A.C.; Aguiar, P.; Bourbon, M.conferenceObjectopenAccess
Jun-2013APOB: old gene, new perspective for Familial HypercholesterolaemiaAlves, A.C.; Etxebarria, A.; Martin, C.; Bourbon, M.conferenceObjectopenAccess
Apr-2017Applicability of the low-density lipoprotein cholesterol gene score in a south European populationMariano, C.; Futema, M.; Humphries, S.E.; Bourbon, M.conferenceObjectembargoedAccess
May-2013Applying virtual crossmatch approach in portuguese kidney transplantsLima, Bruno A.; Mendes, Miguel; Alves, HelenaconferenceObjectopenAccess
Apr-2012Are 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.conferenceObjectopenAccess
May-2017ASD prevalence study across Europe: developing a school-based screening approach in the ASDEU projectGarcía 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.conferenceObjectembargoedAccess
May-2018Assessment of a Portuguese panel reactive antibody calculatorLima, Bruno A.; Alves, HelenaconferenceObjectopenAccess
May-2015Association Between BMI and Blood Lipids in a Portuguese Population – an Analysis of the e_COR StudySiopa, Margarida; Alves, Catarina; Rato, Quitéria; Aguiar, Pedro; Bourbon, MafaldaconferenceObjectembargoedAccess
Jun-2015Avaliação dos Resultados do PNAEQ na Quantificação da HbA2Vilhena, Filipa; Correia, Helena; Cardoso, Ana; Seuanes, Filomena; Copeto, Sandra; Costa, Sandra; Miranda, Armandina; Faria, Ana PaulaconferenceObjectopenAccess
Jun-2014Avaliação Externa da Qualidade no âmbito da Hematologia: experiência PNAEQFaria, Ana; Correia, Helena; Cardoso, Ana; Brito, Cristina; Barreira, Rui; Reis, Ana; Miranda, Ana; Miranda, ArmandinaconferenceObjectopenAccess
Sep-2016Benefits of targeting each risk factor for cardiovascular deathFrutuoso, J.; Portugal, G.; Oliveira, J .; Bourbon, M.conferenceObjectembargoedAccess