Collection's Items (Sorted by Submit Date in Descending order): 1 to 20 of 350
| Issue Date | Title | Author(s) | Type | Access Type |
| 13-Jun-2019 | A new twist to ibuprofen: alternative action in alternative splicing | Jordan, Peter; Gonçalves, Vânia; Matos, Paulo | article |  |
| 28-May-2019 | Tyrosine phosphorylation modulates cell surface expression of chloride cotransporters NKCC2 and KCC3 | Loureiro, Cláudia Almeida; Barros, Patrícia; Matos, Paulo; Jordan, Peter | article |  |
| 27-Nov-2018 | Molecular Epidemiology and Risk Factors of Carbapenemase-Producing Enterobacteriaceae Isolates in Portuguese Hospitals: Results From European Survey on Carbapenemase-Producing Enterobacteriaceae (EuSCAPE) | Manageiro, Vera; Romão, Raquel; Moura, Inês Barata; Sampaio, Daniel A.; Vieira, Luís; Ferreira, Eugénia; Caniça, Manuela | article | |
| 18-Sep-2018 | Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes | Corona-Rivera, Jorge Román; Corona-Rivera, Alfredo; Zepeda-Romero, Luz Consuelo; Rios-Flores, Izabel Maryalexandra; Rivera-Vargas, Jehú; Orozco-Vela, Mireya; Santana-Bejarano, Uriel Francisco; Torres-Anguiano, Elizabeth; Pinto-Cardoso, Manuela; David, Dezso; Bobadilla-Morales, Lucina | article | |
| 28-Dec-2018 | CTNS Molecular Genetics Profile in a Portuguese Cystinosis Population | Ferreira, Filipa; Leal, Inês; Sousa, David; Costa, Teresa; Mota, Conceição; Gomes, Ana Marta; Lopes, Daniela; Carmo Macário, Maria do; Tavares, Isabel; Pinto, Helena; Oliveira, João Paulo; Magriço, Rita; Carmona, Célia; Ramos, Sónia; Neiva, Raquel; Marcão, Ana; Vilarinho, Laura | article | |
| 15-Jun-2018 | Newborn screening for homocystinurias: recent recommendations versus current practice | Keller, Rebecca; Chrastina, Petr; Pavlíková, Markéta; Gouveia, Sofía; Ribes, Antonia; Kölker, Stefan; Blom, Henk J.; Baumgartner, Matthias R.; Bártl, Josef; Dionisi-Vici, Carlo; Gleich, Florian; Morris, Andrew A.; Kožich, Viktor; Huemer, Martina; Barić, Ivo; Ben-Omran, Tawfeq; Blasco-Alonso, Javier; Bueno Delgado, Maria A.; Carducci, Claudia; Cassanello, Michela; Cerone, Roberto; Couce, Maria Luz; Crushell, Ellen; Delgado Pecellin, Carmen; Dulin, Elena; Espada, Mercedes; Ferino, Giulio; Fingerhut, Ralph; Garcia Jimenez, Immaculada; Gonzalez Gallego, Immaculada; González-Irazabal, Yolanda; Gramer, Gwendolyn; Juan Fita, Maria Jesus; Karg, Eszter; Klein, Jeanette; Konstantopoulou, Vassiliki; la Marca, Giancarlo; Leão Teles, Elisa; Leuzzi, Vincenzo; Lilliu, Franco; Lopez, Rosa Maria; Lund, Allan M.; Mayne, Philip; Meavilla, Silvia; Moat, Stuart J.; Okun, Jürgen G.; Pasquini, Elisabeta; Pedron-Giner, Consuélo Carmen; Racz, Gabor Zoltan; Ruiz Gomez, Maria Angeles; Vilarinho, Laura; Yahyaoui, Raquel; Zerjav Tansek, Moja; Zetterström, Rolf H.; Zeyda, Maximilian | article | |
| 17-Oct-2018 | Late‐onset Levodopa Responsive Parkinsonism Due to Polymerase γ 1 Mutations | Calejo, Margarida; Vilarinho, Laura; Neiva, Raquel; Botelho, Luís; Ramalheira, João; Taipa, Ricardo; Melo‐Pires, Manuel; Lima, António Bastos; Damásio, Joana | article | |
| 6-Dec-2018 | Genomic Study of a Clostridium difficile Multidrug Resistant Outbreak-Related Clone Reveals Novel Determinants of Resistance | Isidro, Joana; Menezes, Juliana; Serrano, Mónica; Borges, Vítor; Paixão, Pedro; Mimoso, Margarida; Martins, Filomena; Toscano, Cristina; Santos, Andrea; Henriques, Adriano O.; Oleastro, Mónica | article | |
| 31-Oct-2018 | Insights into the population structure and pan-genome of Haemophilus influenzae | Pinto, M.; González-Díaz, A.; Machado, M.P.; Duarte, S.; Vieira, L.; Carriço, J.A.; Marti, S.; Bajanca-Lavado, M.P.; Gomes, J.P. | article | |
| 18-Oct-2018 | Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference | Lobitz, Stephan; Telfer, Paul; Cela, Elena; Allaf, Bichr; Angastiniotis, Michael; Backman Johansson, Carolina; Badens, Catherine; Bento, Celeste; Bouva, Marelle J.; Canatan, Duran; Charlton, Matthew; Coppinger, Cathy; Daniel, Yvonne; de Montalembert, Marianne; Ducoroy, Patrick; Dulin, Elena; Fingerhut, Ralph; Frömmel, Claudia; García-Morin, Marina; Gulbis, Béatrice; Holtkamp, Ute; Inusa, Baba; James, John; Kleanthous, Marina; Klein, Jeannette; Kunz, Joachim B.; Langabeer, Lisa; Lapouméroulie, Claudine; Marcao, Ana; Marín Soria, José L.; McMahon, Corrina; Ohene-Frempong, Kwaku; Périni, Jean-Marc; Piel, Frédéric B.; Russo, Giovanna; Sainati, Laura; Schmugge, Markus; Streetly, Allison; Tshilolo, Leon; Turner, Charles; Venturelli, Donatella; Vilarinho, Laura; Yahyaoui, Rachel; Elion, Jacques; Colombatti, Raffaella; with the endorsement of EuroBloodNet, the European Reference Network in Rare Haematological Diseases | article | |
| 25-Feb-2018 | Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative Variant | Pereira, Sandra; Adrião, Mariana; Sampaio, Mafalda; Basto, Margarida Ayres; Rodrigues, Esmeralda; Vilarinho, Laura; Teles, Elisa Leão; Alonso, Isabel; Leão, Miguel | article | |
| 2-Jan-2018 | Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome | Navarro, David; Azevedo, Ana; Sequeira, Sílvia; Ferreira, Ana Carina; Carvalho, Fernanda; Fidalgo, Teresa; Vilarinho, Laura; Santos, Maria Céu; Calado, Joaquim; Nolasco, Fernando | article | |
| 29-Oct-2018 | Leigh syndrome: a case report with a mitochondrial DNA mutation | Lopes, Tânia; Coelho, Margarida; Bordalo, Diana; Bandeira, António; Bandeira, Anabela; Vilarinho, Laura; Fonseca, Paula; Carvalho, Sónia; Martins, Cecília; Oliveira, José Gonçalves | article | |
| 24-Dec-2018 | Glycoprotein Non-Metastatic Protein B: an Emerging Biomarker for Lysosomal Dysfunction in Macrophages | van der Lienden, Martijn; Gaspar, Paulo; Boot, Rolf; Aerts, Johannes; van Eijk, Marco | article | |
| 29-Jan-2019 | Biological impact of metal nanomaterials in relation to their physicochemical characteristics | Louro, Henriqueta; Saruga, Andreia; Santos, Joana; Pinhão, Mariana; Silva, Maria Joao | article | |
| 7-Dec-2018 | Diagnosis, management, and follow-up of mitochondrial disorders in childhood: a personalized medicine in the new era of genome sequence | Paiva Coelho, Margarida; Martins, Esmeralda; Vilarinho, Laura | article | |
| 11-Sep-2018 | Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy | Matos, Liliana; Duarte, Ana Joana; Ribeiro, Diogo; Chaves, João; Amaral, Olga; Alves, Sandra | article | |
| Apr-2018 | Immunogenetic predisposing factors for mesial temporal lobe epilepsy with hippocampal sclerosis | Leal, Bárbara; Chaves, João; Carvalho, Cláudia; Bettencourt, Andreia; Brito, Cláudia; Boleixa, Daniela; Freitas, Joel; Brás, Sandra; Lopes, João; Ramalheira, João; Costa, Paulo; Silva, Berta; Martins Da Silva, António | article | |
| Apr-2018 | Imipenem Resistance in Clostridium difficile Ribotype 017, Portugal | Isidro, Joana; Santos, Andrea; Nunes, Alexandra; Borges, Vítor; Silva, Catarina; Vieira, Luís; Mendes, Aristides L.; Serrano, Mónica; Henriques, Adriano O.; Gomes, João Paulo; Oleastro, Mónica | article | |
| 27-Mar-2018 | Dissecting whole-genome sequencing-based online tools for predicting resistance in Mycobacterium tuberculosis: can we use them for clinical decision guidance? | Macedo, Rita; Nunes, Alexandra; Portugal, Isabel; Duarte, Sílvia; Vieira, Luís; Gomes, João Paulo | article | |
Collection's Items (Sorted by Submit Date in Descending order): 1 to 20 of 350
