Collection's Items (Sorted by Submit Date in Descending order): 1 to 20 of 142
| Issue Date | Title | Author(s) | Type | Access Type |
| Jun-2018 | miRNA and lncRNA gene variants in Autism Spectrum Disorder | Marques, Ana Rita; Martiniano, H.; Santos, J.X.; Vilela, J.; Asif, M.; Oliveira, G.; Enguita, F.J.; Romão, L.; Vicente, A.M. | conferenceObject |  |
| Jun-2018 | Screening Procedures Based in Modified Classification Trees Applied to Paediatric Familial Hypercholesterolemia | Albuquerque, João; Alves, Ana Catarina; Bourbon, Mafalda; Antunes, Marília | conferenceObject | |
| Jun-2018 | Translating the complex ASD genetic architecture into clinical phenotype using an integrative system biology approach | Asif, M.; Martiniano, Hugo F.; Rasga, Celia; Marques, Ana R.; Santos, João X.; Couto, Francisco M.; Vicente, A.M. | 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 | |
| Jun-2018 | A role for gene-environment interactions in Autism Spectrum Disorder is suggested by an excess of potentially pathogenic variants in genes regulating exposure to toxicants | Santos, J.X.; Marques, A.R.; Rasga, C.; Asif, M.; Vilela, J.; Martiniano, H.; Oliveira, G.; Nunes, A.; Vicente, A.M. | conferenceObject | |
| 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 | Characterization of pediatric patients from Portuguese FH study | Abrantes, LB.; Alves, A.C.; Medeiros, A.M.; Correia, S.; Cruz, A.; Lobarinhas, G.; Garcia, P.; Guerra, A.; Mansilha, H.; Martins, E.; Martins, P.; Salgado, J.; Bourbon, M.; on behalf of investigators of Portuguese FH study | conferenceObject | |
| May-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 | |
| May-2018 | Assessment of a Portuguese panel reactive antibody calculator | Lima, Bruno A.; Alves, Helena | conferenceObject |  |
| May-2018 | Study of rare familial monogenic dyslipidemias in Portugal | Alves, Ana Catarina; Raimundo, Ana; Graça, Rafael; Sequeira, Sílvia; Ferreira, Ana Cristina; Moldovan, Oana; Travessa, André; Lobarinhas, Goreti; Mansilha, Helena; Duarte, Sequeira; Gaspar, Ana; Guerra, António; Bourbon, Mafalda | conferenceObject | |
| Oct-2017 | Expression of angiogenic and inflammation markers in murine schistosomiasis mansoni | Dematei, A.; Fernandes, R.; Soares, R.; Alves, H.; Richter, J.; Botelho, M.C. | conferenceObject | |
| Oct-2017 | Hemoglobinas variantes com mobilidade eletroforética semelhante à da Hemoglobina S | Miranda, Armandina; Seuanes, Filomena; Copeto, Sandra; Loureiro, Pedro; Costa, Alcina; Costa, Sandra; Seixas, Maria Teresa; Gonçalves, João; Faustino, Paula | conferenceObject | |
| Oct-2017 | Could Estradiol be used as a biomarker of infection in Schistosoma haematobium infected patients? | Botelho, M.C; Cardoso, R.; Bordalo, A.; Alves, H.; Richter, J. | conferenceObject | |
| Oct-2017 | Anti-cancer potential of Fasciola hepatica extracts | Ferreira, S.; Fernandes, R.; Alves, H.; Richter, J.; Botelho, M.C. | conferenceObject | |
| Oct-2017 | Steroid hormones in murine schistosomiasis mansoni | Oliveira, K.C.; Cardoso, R.; Dos Santos, A.C.; Alves, H.; Richter, J.; Botelho, M.C. | 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 | |
| Oct-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-2017 | Progress in ACMG/AMP-adapted guidelines for standardized variant curation in familial hypercholesterolemia | Iacocca, Michael A.; Chora, Joana; Rivera, E. Andy; DiStefano, Marina T.; Carrie, Alain; Sijbrands, Eric J.; Defesche, Joep; Freiberger, Tomas; Knowles, Joshua W.; Hegele, Robert A.; Bourbon, Mafalda | 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 | |
| 22-Jun-2017 | Unusual molecular mechanisms in the origin of alpha-thalassemia | Ferrão, José; Silva, Marisa; Gonçalves, Lúcia; Gomes, Susana; Loureiro, Pedro; Coelho, Andreia; Miranda, Armandina; Seuanes, Filomena; Batalha Reis, Ana; Pina, Francisca; Maia, Raquel; Kjollerstrom, Paula; Monteiro, Estela; F. Lacerda, João; Lavinha, João; Gonçalves, João; Faustino, Paula | conferenceObject | |
Collection's Items (Sorted by Submit Date in Descending order): 1 to 20 of 142
