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DataTítuloAutor(es)TipoAcesso
27-Mai-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
20-Mar-2014Alterations in lipid profile and enzymes paraoxonase and butyrylcholinesterase in CBS-deficient patientsVanzin, Camila; Nogueira, Célia; Vilarinho, Laura; Wajner, Moacir; Wyse, Angela; Vargas, CarmenconferenceObjectopenAccess
25-Nov-2014Alternative splicing of tumour-related Rac1b in colorectal cells is regulated by protein phosphorylation of splicing factor SRSF1Gonçalves, Vânia; Henriques, Andreia; Pereira, Joana; Neves-Costa, Ana; Moyer, Pat; Ferreira Moita, Luís; Gama-Carvalho, Margarida; Matos, Paulo; Jordan, PeterconferenceObjectopenAccess
14-Nov-2011Alternative splicing of tumour-related Rac1b is regulated by upstream signalling pathwaysGonçalves, Vânia; Matos, Paulo; Jordan, PeterconferenceObjectopenAccess
Mar-2012Alternative splicing of tumour-related Rac1b is regulated by upstream signalling pathwaysGonçalves, Vânia; Jordan, PeterconferenceObjectrestrictedAccess
Abr-2012Alternative splicing of tumour-related rac1b is regulated by upstream signalling pathwaysGonçalves, Vânia; Matos, Paulo; Jordan, PeterconferenceObjectopenAccess
Set-2011Alu-Alu recombination underlying the first large genomic deletion in GlcNAc-phosphotransferase α/β (GNPTAB) gene in a MLII α/β patient [Poster]Coutinho, Maria Francisca; da Silva Santos, Liliana; Lacerda, Lúcia; Flemming, Wibrand; Lund, Allan M; Johansen, Klaus B; Prata, Maria João; Alves, SandraconferenceObjectrestrictedAccess
24-Nov-2017Ambiente, genoma e cancroSilva, Maria JoãoconferenceObjectrestrictedAccess
14-Out-2013Amostragem para avaliação da contaminação do ar por fibrasAguiar, FátimaconferenceObjectrestrictedAccess
29-Nov-2016Ampicillin Resistance Mechanisms in Clinical Haemophilus influenzae: What is Happening in Portugal?Bajanca-Lavado, Maria PaulaconferenceObjectopenAccess
28-Jun-2013An account of the portuguese experience: advances and challenges in diagnosis, therapy and research in lysosomal disordersAmaral, OlgaconferenceObjectrestrictedAccess
2013An Alu-mediated 1Mb deletion removes Wilms’ tumor 1 (WT1) but not PAX6 in a patient with isolated cryptorchidismSeabra, Catarina; Quental, Sofia; Neto, Ana; Carvalho, Filipa; Gonçalves, João; Fernandes, Susana; Sousa, Mário; Barros, Alberto; Amorim, António; Lopes, Alexandra MconferenceObjectrestrictedAccess
Set-2016An insight into the transcriptome of Rhipicephalus bursa: differential gene expression upon feeding and in response to salivary glands infection with Babesia ovisCouto, J.; Antunes, S.; Ferrolho, J.; Santos, A.S.; Santos-Silva, M.M.; de la Fuente, J.; Domingos, A.conferenceObjectrestrictedAccess
Mai-2017An integrative system biology approach for dissecting Autism Spectrum DisorderAsif, M.; Rasga, C.; Martiniano, H.; Santos, J.X.; Marques, A.R.; Couto, F.M .; Vicente, A.M.conferenceObjectembargoedAccess
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
Out-2017An integrative system biology approach to delineate complex genotype-phenotype associations in Autism Spectrum DisorderAsif, M; Martiniano, Hugo F.; Rasga, Celia; Marques, Ana R.; Santos, Joao X.; O., Guiomar; Couto, Francisco M.; Vicente, Astrid M.conferenceObjectembargoedAccess
Out-2012An overview of Portuguese traditional foods with quality product designationsAbuquerque, T.G.; Sanches-Silva, A.; Santos, F.; Costa, H.S.conferenceObjectrestrictedAccess
10-Jul-2017An unexpected role for DIS3L2 over human NMD targetsCosta, Paulo; Saramago, Margarida; Viegas, Sandra; Arraiano, Cecília; Romão, LuísaconferenceObjectembargoedAccess
6-Out-2017An unexpected role for DIS3L2 over human NMD targetsCosta, Paulo; Saramago, Margarida; Viegas, Sandra; Arraiano, Cecília; Santos, Hugo; Gama-Carvalho, Margarida; Romão, LuísaconferenceObjectembargoedAccess
Jul-2017An update on the current salt content of Portuguese processed foodsAlbuquerque, T.G.; Oliveira, M.B.P.P.; Costa, H.S.conferenceObjectopenAccess