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Items da Coleção (Ordenados por Data de depósito em ordem descendente): 1 até 20 de 83
DataTítuloAutor(es)TipoAcesso
Mar-2017Genetically modulated substrate reduction therapyCoutinho, Maria Francisca; Santos, Juliana Inês; Matos, Liliana; Alves, SandraconferenceObjectopenAccess
Set-2017Genetically modulated Substrate Reduction Therapy for Mucopolysaccharidoses – in vitro studiesCoutinho, Maria Francisca; Santos, Juliana Inês; Gaspar, Paulo; Alves, SandraconferenceObjectopenAccess
Nov-2017Spectrum of structural genomic abnormalities in subjects carrying disease-associated chromosome rearrangements and their pathogenic implicationsDavid, DezsoconferenceObjectopenAccess
Nov-2018Development of RNA based approaches to exploit alternative therapies for Lysosomal Storage DiseasesAlves, SandraconferenceObjectopenAccess
Nov-2017Neurodegenerative Lysosomal Diseases Approached by Next Generation SequencingEncarnação, Marisa; Coutinho, Maria Francisca; Silva, Lisbeth; Ribeiro, Diogo; Nogueira, Célia; Vilarinho, Laura; Alves, SandraconferenceObjectopenAccess
Nov-2017Disruption of WDR26 by a translocation breakpoint confirms its causal role in Skraban-Deardorff and 1q41q42 microdeletion syndromesFreixo, J.P.; Marques, M.; Fino, J.; Carvalho, I.; Talkowski, M.E.; Morton, C.; David, D.conferenceObjectopenAccess
22-Mar-2017Development of antisense U1 snRNA-mediated therapeutic strategies to modulate splicing in lysosomal storage disordersMatos, LilianalectureopenAccess
Nov-2017Development of an antisense-mediated exon skipping therapeutic strategy to correct a frequent causing mutation in Mucolipidosis IIMatos, Liliana; Vilela, Regina; Coutinho, Maria Francisca; Gaspar, Paulo; Alves, SandraconferenceObjectopenAccess
Out-2017Hemoglobinas variantes com mobilidade eletroforética semelhante à da Hemoglobina SMiranda, Armandina; Seuanes, Filomena; Copeto, Sandra; Loureiro, Pedro; Costa, Alcina; Costa, Sandra; Seixas, Maria Teresa; Gonçalves, João; Faustino, PaulaconferenceObjectopenAccess
16-Nov-2017CMA em diagnóstico pré-natal – “And so the story goes…”Serafim, SilviaconferenceObjectclosedAccess
7-Set-2017A network integrative approach to unravel new links between NMD and mRNA processing pathwaysNogueira, Gonçalo; Pinto, Francisco; Romão, LuísaconferenceObjectembargoedAccess
16-Nov-2017Regulatory RNAs targeted by Copy Number Variation in Autism Spectrum DisorderMarques, Ana Rita; Martiniano, H.; Santos, J.X.; Asif, M.S.; Oliveira, G.; Romão, Luísa; Vicente, AstridconferenceObjectembargoedAccess
16-Nov-2017Behind the curtain: unveiling DIS3L2 role in NMD and human cancerCosta, Paulo; Saramago, Margarida; Viegas, Sandra; Arraiano, Cecília; Romão, LuísaconferenceObjectembargoedAccess
16-Nov-2017IRES-dependent translation of shorter p53 isoforms is affected by mutations in p53Lacerda, Rafaela; Neves, Ana Rita; Maruo, M; Romão, Luísa; Matsuda, M; Candeias, MarcoconferenceObjectembargoedAccess
10-Jul-2017An unexpected role for DIS3L2 over human NMD targetsCosta, Paulo; Saramago, Margarida; Viegas, Sandra; Arraiano, Cecília; Romão, LuísaconferenceObjectembargoedAccess
9-Nov-2017Toxicity of environmental pollutants: from the bench research to human biomonitoring studiesPinto, Miguel; Sacadura, Joana; Louro, Henriqueta; Costa, Pedro Manuel; Lavinha, João; Costa, Maria Helena; Caeiro, Sandra; Silva, Maria JoãoconferenceObjectrestrictedAccess
3-Out-2017Evalution of a challenge assay as na effect biomarker in environmental or occupational biomonitoring studiesLouro, Henriqueta; Monteiro-Gil, Octávia; Penque, Deborah; Silva, Maria JoãoconferenceObjectrestrictedAccess
18-Nov-2017Ethical and Scientific Issues of Personalized MedicineVentura, CélialecturerestrictedAccess
8-Nov-2017Tackling the uncertainties of emergent nanomaterials for public health: are metal nanoparticles hazardous pollutants?Louro, Henriqueta; Saruga, Andreia; Pinhão, Mariana; Santos, Joana; Silva, Maria JoãoconferenceObjectrestrictedAccess
2-Out-2017Improving risk assessment of chemicals by the use of human biomonitoring - HBM4EU project activitiesSantonen, T.; Alvito, Paula; Bessems, J.; Borges, T.; Brunet, D.; Buekers, J.; Cornelis, C.; van Engelen, J.; Gonzalez Caballero, M.C.; Humar-Juric, T.; Heinälä, M.; Klaus, A.; Kononenko, L.; Krul, L.; Lamkarkach, F.; Louro, Henriqueta; Pronk, A.; Ormsby, J-N.; Viegas, S.; Rousselle, C.; Schaddelee-Scholten, B.; Silva, Maria João; Stierum, R.; Vinggaard, S A.M.; Vermeire, T.; Woutersen, M.conferenceObjectrestrictedAccess
Items da Coleção (Ordenados por Data de depósito em ordem descendente): 1 até 20 de 83