DGH - Artigos em revistas internacionais : [287] Página principal da colecção

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Items da Coleção (Ordenados por Data de depósito em ordem descendente): 1 até 20 de 287
DataTítuloAutor(es)TipoAcesso
Nov-2017Cap-independent translation ensures mTOR expression and function upon protein synthesis inhibitionMarques-Ramos, Ana; Romão, Luísa; Candeias, Marco; Menezes, Juliane; Lacerda, Rafaela; Willcocks, M.; Teixeira, Alexandre; Locker, NicolasarticleembargoedAccess
19-Abr-2017Iron Refractory Iron Deficiency Anemia in dizygotic twins due to a novel TMPRSS6 gene mutation in addition to polymorphisms associated with high susceptibility to develop ferropenic anemiaPinto, Joana; Nobre de Jesus, Gustavo; Palma Anselmo, Mónica; Gonçalves, Lúcia; Brás, Daniela; Madeira Lopes, João; Meneses, João; Victorino, Rui; Faustino, PaulaarticleopenAccess
18-Set-2017Mutation frequency of three neurodegenerative lysosomal storage diseases: from screening to treatment?Amaral, Olga; Duarte, Ana Joana; Ribeiro, Diogo; Oliveira, PedroarticleembargoedAccess
Jun-2017Hyperprolinemia as a clue in the diagnosis of a patient with psychiatric manifestationsDuarte, Marco; Afonso, Joana; Moreira, Ana; Antunes, Diana; Ferreira, Cristina; Correia, Hildeberto; Marques, Margarida; Sequeira, SílviaarticleembargoedAccess
11-Mai-2017Very late presentation of a disorder of sex developmentMartins, J.M.; Fraga, M.; Miguens, J.; Tortosa, F.; Marques, B.; Sousa, A.D.articleembargoedAccess
Nov-2017Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders: authors’ reply to the Drs. Finsterer and Zarrouk-Mahjoub commentsCruz, Simão; Taipa, Ricardo; Nogueira, Célia; Melo-Pires, Manuel; Vilarinho, LauraarticleembargoedAccess
Jan-2017Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiencyHuemer, Martina; Diodato, Daria; Schwahn, Bernd; Schiff, Manuel; Bandeira, Anabela; Benoist, Jean-Francois; Burlina, Alberto; Cerone, Roberto; Couce, Maria L; Garcia-Cazorla, Angeles; la Marca, Giancarlo; Pasquini, Elisabetta; Vilarinho, Laura; Weisfeld-Adams, James D; Kožich, Viktor; Blom, Henk; Baumgartner, Matthias R; Dionisi-Vici, CarloarticleopenAccess
25-Ago-2017Population genetics of IFITM3 in Portugal and Central Africa reveals a potential modifier of influenza severityDavid, S; Correia, V; Antunes, L; Faria, R; Ferrão, J; Faustino, P; Nunes, B; Maltez, F; Lavinha, J; Rebelo de Andrade, HarticleopenAccess
4-Set-2017Editing an α-globin enhancer in primary human hematopoietic stem cells as a treatment for β-thalassemiaMettananda, Sachith; Fisher, Chris A.; Hay, Deborah; Badat, Mohsin; Quek, Lynn; Clark, Kevin; Hublitz, Philip; Downes, Damien; Kerry, Jon; Gosden, Matthew; Telenius, Jelena; Sloane-Stanley, Jackie A.; Faustino, Paula; Coelho, Andreia; Doondeea, Jessica; Usukhbayar, Batchimeg; Sopp, Paul; Sharpe, Jacqueline A.; Hughes, Jim R.; Vyas, Paresh; Gibbons, Richard J.; Higgs, Douglas R.articleopenAccess
8-Set-2017Widening the spectrum of deletions and molecular mechanisms underlying alpha-thalassemiaFerrão, José; Silva, Marisa; Gonçalves, Lúcia; Gomes, Susana; Loureiro, Pedro; Coelho, Andreia; Miranda, Armandina; Seuanes, Filomena; Reis, Ana Batalha; Pina, Francisca; Maia, Raquel; Kjollerstrom, Paula; Monteiro, Estela; Lacerda, João F.; Lavinha, João; Gonçalves, João; Faustino, PaulaarticleembargoedAccess
30-Jun-2017Variants in the non-coding region of the TLR2 gene associated with infectious subphenotypes in pediatric sickle cell anemiaDavid, Susana; Aguiar, Pedro; Antunes, Liliana; Dias, Alexandra; Morais, Anabela; Sakuntabhai, Anavaj; Lavinha, JoãoarticleembargoedAccess
5-Jul-2017Toxicity screening of a novel poly(methylmethacrylate)-Eudragit nanocarrier on L929 fibroblastsGraça, Diogo; Louro, Henriqueta; Santos, Joana; Dias, Kamila; Almeida, Antonio J; Gonçalves, Lídia; Silva, Maria João; Bettencourt, AnaarticlerestrictedAccess
Mar-2017Molecular picture of cobalamin C/D defects before and after newborn screening eraNogueira, C.; Marcão, A.; Rocha, H.; Sousa, C.; Fonseca, H.; Valongo, C.; Vilarinho, L.articleembargoedAccess
27-Jan-2017Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disordersCruz, Simão; Taipa, Ricardo; Nogueira, Célia; Pereira, Cristina; Almeida, Lígia S.; Neiva, Raquel; Geraldes, Tiago; Guimarães, António; Pires, Manuel Melo; Vilarinho, LauraarticleembargoedAccess
30-Nov-2016Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiencyHuemer, Martina; Diodato, Daria; Schwahn, Bernd; Schiff, Manuel; Bandeira, Anabela; Benoist, Jean-Francois; Burlina, Alberto; Cerone, Roberto; Couce, Maria L.; Garcia-Cazorla, Angeles; la Marca, Giancarlo; Pasquini, Elisabetta; Vilarinho, Laura; Weisfeld-Adams, James D.; Kožich, Viktor; Blom, Henk; Baumgartner, Matthias R.; Dionisi-Vici, CarloarticleopenAccess
16-Jan-2017Evening and morning alterations in Obstructive Sleep Apnea red blood cell proteomeFeliciano, Amélia; Vaz, Fátima; Valentim-Coelho, Cristina; Torres, Vukosava M.; Silva, Rita; Prosinecki, Vesna; Alexandre, Bruno M.; Almeida, Andreia; Almeida-Marques, Catarina; Carvalho, Ana S.; Matthiesen, Rune; Malhotra, Atul; Pinto, Paula; Bárbara, Cristina; Penque, DeboraharticleopenAccess
22-Set-2016Fibrous shape underlies the mutagenic and carcinogenic potential of nanosilver while surface chemistry affects the biosafety of iron oxide nanoparticlesGábelová, A.; El Yamani, N.; Alonso, T.I.; Buliaková, B.; Srančíková, A.; Bábelová, A.; Pran, E.R.; Fjellsbø, L.M.; Elje, E.; Yazdani, M.; Silva, M.J.; Dušinská, M.articleembargoedAccess
Abr-2016Methylation of the miR-126 gene associated with glioma progressionCui, Hongwei; Mu, Yongping; Yu, Lei; Xi, Ya-guang; Matthiesen, Rune; Su, Xiulan; Sun, WenjiearticleopenAccess
Dez-2016Sequence variation at KLK and WFDC clusters and its association to semen hyperviscosity and other male infertility phenotypesMarques, Patrícia Isabel; Fonseca, Filipa; Carvalho, Ana Sofia; Puente, Diana A.; Damião, Isabel; Almeida, Vasco; Barros, Nuno; Barros, Alberto; Carvalho, Filipa; Azkargorta, Mikel; Elortza, Felix; Osório, Hugo; Matthiesen, Rune; Quesada, Victor; Seixas, SusanaarticleembargoedAccess
23-Mai-2016QnrS1- and Aac(6')-Ib-cr-Producing Escherichia coli among Isolates from Animals of Different Sources: Susceptibility and Genomic CharacterizationJones-Dias, Daniela; Manageiro, Vera; Graça, Rafael; Sampaio, Daniel A.; Albuquerque, Teresa; Themudo, Patrícia; Vieira, Luís; Ferreira, Eugénia; Clemente, Lurdes; Caniça, ManuelaarticleopenAccess
Items da Coleção (Ordenados por Data de depósito em ordem descendente): 1 até 20 de 287