Collection's Items (Sorted by Submit Date in Descending order): 1 to 20 of 101
| Issue Date | Title | Author(s) | Type | Access Type |
| 8-Mar-2019 | Diabetes mellitus tipo 2 (DMT2) associada a Sindrome de Apneia Obstrutiva do Sono (SAOS): um estudo proteómico | Vaz, Fátima; Valentim-Coelho, Cristina; Neves, Sofia; Penque, Deborah; Barbara, Cristina | conferenceObject |  |
| 4-Jun-2018 | Projeto Doenças Genómicas e Rearranjos Cromossómicos: dificuldades diagnósticas e o impacto para a família | David, Dezso | conferenceObject |  |
| 5-Jun-2018 | Next generation sequencing: a golden tool in mitochondrial diseases | Nogueira, Celia; Pereira, Cristina; Silva, Lisbeth; Vieira, Luis; Leão Teles, Elisa; Campos, Teresa; Rodrigues, Esmeralda; Martins, Esmeralda; Bandeira, Anabela; Soares, Gabriela; Janeiro, Patricia; Costa, Claudia; Gaspar, Ana; Santos, Helena; Vilarinho, Laura | conferenceObject | |
| Mar-2018 | Next Generation Sequencing and Lysosomal Dysfunction: Novel mutations associated with Neurodegenerative disorders. | Encarnação, Marisa; Coutinho, Maria Francisca; Matos, Liliana; Silva, Lisbeth; Ribeiro, Diogo; Nogueira, Célia; Vilarinho, Laura; Alves, Sandra | conferenceObject |  |
| Jun-2018 | MiR-134 serum expression in Mesial Temporal Lobe Epilepsy patients | Leal, B.; Rodrigues, D.; Carvalho, C.; Ferreira, R.; Chaves, J.M.M.; Bettencourt, A.; Freitas, J.; Lopes, J. M.C.F.; Ramalheira, J.E.D.P.; Martins da Silva, A.; Costa, P.P.; Martins da Silva, B. | conferenceObject | |
| Nov-2018 | Enzyme Replacement Therapies for Lysosomal Storage Diseases | Coutinho, Maria Francisca | conferenceObject | |
| 15-Mar-2019 | SCARB2 mutations as modifiers in Gaucher disease: the wrong enzyme at the wrong place? | Coutinho, Maria Francisca; Lacerda, L.; Gaspar, A.; Pinto, E.; Ribeiro, I.; Laranjeira, F.; Ribeiro, H.; Silva, E.; Ferreira, C.; Prata, M.J.; Alves, S. | conferenceObject | |
| Mar-2018 | Genetically Modulated Substrate Reduction Therapy for Sanfilippo Syndrome: Proof of Principle | Santos, Juliana Inês; Coutinho, Maria Francisca; Gaspar, Paulo; Alves, Sandra | conferenceObject | |
| Jun-2018 | Less is More: Substrate Reduction Therapy for Lysosomal Storage Disorders | Coutinho, Maria Francisca; Santos, J.I.; Alves, Sandra | conferenceObject | |
| 15-Nov-2018 | Common p53 mutations induce IRES-mediated translation of oncogenic shorter p53 isoforms | Pereira, Bruna; Lacerda, Rafaela; Maria López-Iniesta, M; Romão, Luísa; Candeias, Marco | conferenceObject | |
| 15-Nov-2018 | Evidence for a role of nonsense-mediated mRNA decay pathway genes in Autism Spectrum Disorder | Marques, Ana; Martiniano, Hugo; Santos, J.X.; Vilela, J.; Asif, M.; Oliveira, G.; Romão, Luísa; Vicente, Astrid | conferenceObject | |
| 20-Mar-2018 | Contribution to the hazard assessment of benchmark metallic nanomaterials through a set of in vitro genotoxicity assays | Vital, Nádia; El Yamani, Naouale; Pinhão, Mariana; Rúden-Pra, Elise; Louro, Henriqueta; Dušinská, Maria; Silva, Maria João | conferenceObject | |
| 24-Sep-2018 | Performance and impact of HBM4EU, how to evaluate? | Reynders, Hans; Campenhout, Karen Van; Louro, Henriqueta; Silva, Maria João; Isidro, Glória; Colles, Ann | lecture | |
| Oct-2018 | Are cellulose nanofibrils safe for biomedical applications? | Vilar, Madalena; Lourenço, Ana Filipa; Ventura, Célia; Louro, Henriqueta; Ferreira, Paulo; Félix, Sérgio; Silva, Maria João | conferenceObject | |
| 15-Nov-2018 | Genomic Pitt_falls: Inglorious Ring(16) | Marques, Bárbara | conferenceObject |  |
| Nov-2018 | Regulation of the Alternative Splicing of Tumor-Related RAC1b by Signal Transduction Pathways | Gonçalves, Vânia; Matos, Paulo; Pereira, Joana; Henriques, Andreia; Jordan, Peter | conferenceObject | |
| Jul-2018 | Regulation of alternative splicing of tumor-related RAC1b by signal transduction pathways | Jordan, Peter | conferenceObject | |
| 25-Jan-2018 | Assessing the Safety of Polymeric Nanoparticulated Systems developed for Drug Delivery with Human Osteoblasts | Dias, Kamila; Louro, Henriqueta; Gonçalves, Lídia; Bettencourt, Ana; Silva, Maria João | conferenceObject | |
| Mar-2017 | Genetically modulated substrate reduction therapy | Coutinho, Maria Francisca; Santos, Juliana Inês; Matos, Liliana; Alves, Sandra | conferenceObject | |
| Sep-2017 | Genetically modulated Substrate Reduction Therapy for Mucopolysaccharidoses – in vitro studies | Coutinho, Maria Francisca; Santos, Juliana Inês; Gaspar, Paulo; Alves, Sandra | conferenceObject | |
Collection's Items (Sorted by Submit Date in Descending order): 1 to 20 of 101
