DGH - Artigos em revistas internacionais : [275] Página principal da colecção

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Items da Coleção (Ordenados por Data de depósito em ordem descendente): 1 até 20 de 275
DataTítuloAutor(es)TipoAcesso
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
Dez-2016LPIN1 deficiency: A novel mutation associated with different phenotypes in the same familyNunes, D.; Nogueira, C.; Lopes, A.; Chaves, P.; Rodrigues, E.; Cardoso, T.; Leão Teles, E.; Vilarinho, L.articleopenAccess
5-Nov-2016Serum 25-hydroxyvitamin D levels in a healthy population from the North of PortugalBettencourt, Andreia; Boleixa, Daniela; Reis, Júlia; Oliveira, José Carlos; Mendonça, Denisa; Costa, Paulo Pinho; Silva, Berta Martins da; Marinho, António; Silva, Ana Martins daarticleembargoedAccess
7-Out-2016Environmental risk assessment in a contaminated estuary: An integrated weight of evidence approach as a decision support toolCaeiro, Sandra; Vaz-Fernandes, Paula; Martinho, Ana Paula; Costa, Pedro; Silva, Maria João; Lavinha, João; Matias-Dias, Carlos; Machado, Ausenda; Castanheira, Isabel; Costa, Maria HelenaarticleembargoedAccess
7-Jun-2016High throughput toxicity screening and intracellular detection of nanomaterialsCollins, A.R.; Annangi, B.; Rubio, L.; Marcos, R.; Dorn, M.; Merker, C.; Estrela-Lopis, I.; Cimpan, M.R.; Ibrahim, M.; Cimpan, E.; Ostermann, M.; Sauter, A.; Yamani, N.E.; Shaposhnikov, S.; Chevillard, S.; Paget, V.; Grall, R.; Delic, J.; de-Cerio, F.G.; Suarez-Merino, B.; Fessard, V.; Hogeveen, K.N.; Fjellsbø, L.M.; Pran, E.R.; Brzicova, T.; Topinka, J.; Silva, M.J.; Leite, P.E.; Ribeiro, A.R.; Granjeiro, J.M.; Grafström, R.; Prina-Mello, A.; Dusinska, M.articleopenAccess
Out-2016Towards a nanospecific approach for risk assessment.Dekkers, S.; Oomen, A.G.; Bleeker, E.A.; Vandebriel, RJ..; Micheletti, C.; Cabellos, J.; Janer, G.; Fuentes, N.; Vázquez-Campos, S.; Borges, T.; Silva, M.J.; Prina-Mello, A.; Movia, D.; Nesslany, F.; Ribeiro, A.R.; Leite, P.E.; Groenewold, M.; Cassee, F.R.; Sips, A.J.; Dijkzeul, A.; van Teunenbroek, T.; Wijnhoven, S.W.articleopenAccess
14-Nov-2016The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomaliesRedin, Claire; Brand, Harrison; Collins, Ryan L.; Kammin, Tammy; Mitchell, Elyse; Hodge, Jennelle C.; Hanscom, Carrie; Pillalamarri, Vamsee; Seabra, Catarina M.; Abbott, Mary-Alice; Abdul-Rahman, Omar A.; de Vries, Bert B A.; Earl, Dawn L.; Ferguson, Heather L.; Harris, David J.; Fisher, Heather; FitzPatrick, David R.; Gerrol, Pamela; Giachino, Daniela; Glessner, Joseph T.; Gliem, Troy; Margolin, Lauren; Grady, Margo; Graham, Brett H.; Griffis, Cristin; Hayden, Mark A.; Hill, Rosamund; Hochstenbach, Ron; Hoffman, Jodi D.; Hopkin, Robert J.; Hubshman, Monika W.; Moya, Graciela; Mason, Tamara; Innes, A Micheil; Irons, Mira; Irving, Melita; Jacobsen, Jessie C.; Janssens, Sandra; Jewett, Tamison; Johnson, John P.; Jongmans, Marjolijn C.; Kahler, Stephen G.; Koolen, David A.; Masser-Frye, Diane; Nieuwint, Aggie W.; Korzelius, Jerome; Kroisel, Peter M.; Lacassie, Yves; Lawless, William; Lemyre, Emmanuelle; Leppig, Kathleen; Levin, Alex V.; Li, Haibo; Li, Hong; Parkash, Sandhya; Liao, Eric C.; Ordulu, Zehra; Lim, Cynthia; Lose, Edward J.; Lucente, Diane; Macera, Michael J.; Manavalan, Poornima; Mandrile, Giorgia; Marcelis, Carlo L.; McClellan, Michael W.; Mendoza, Cinthya J. Zepeda; Menten, Björn; Middelkamp, Sjors; Mikami, Liya R.; Moe, Emily; Wiley, Susan; Mohammed, Shehla; Mononen, Tarja; Mortenson, Megan E.; Pauker, Susan P.; Pereira, Shahrin; Perrin, Danielle; Phelan, Katy; Aguilar, Raul E Piña; Poddighe, Pino J.; Aberg, Erika; Wilson, Anna; Pregno, Giulia; Raskin, Salmo; Reis, Linda; Rhead, William; Rita, Debra; Renkens, Ivo; Roelens, Filip; Ruliera, Jayla; Rump, Patrick; Schilit, Samantha L.P.; Yerena-de Vega, Maria de la Concepcion A.; Adley, Rhett; Shaheen, Ranad; Sparkes, Rebecca; Spiegel, Erica; Stevens, Blair; Stone, Matthew R.; Tagoe, Julia; Thakuria, Joseph V.; van Bon, Bregje W.; van de Kamp, Jiddeke; Alkuraya, Fowzan S.; van Der Burgt, Ineke; Alcaraz-Estrada, Sofia L.; van Essen, Ton; van Ravenswaaij-Arts, Conny M.; van Roosmalen, Markus J.; Vergult, Sarah; Volker-Touw, Catharina M.L.; Warburton, Dorothy P.; Waterman, Matthew J.; Zori, Roberto T.; Levy, Brynn; Brunner, Han G.; de Leeuw, Nicole; Kloosterman, Wigard P.; Thorland, Erik C.; Gripp, Karen W.; Morton, Cynthia C.; Gusella, James F.; Talkowski, Michael E.; An, Yu; Anderson, Mary-Anne; Antolik, Caroline; Anyane-Yeboa, Kwame; Atkin, Joan F.; Bartell, Tina; Bernstein, Jonathan A.; Gropman, Andrea L.; Beyer, Elizabeth; Blumenthal, Ian; Bongers, Ernie M.H.F.; Brilstra, Eva H.; Brown, Chester W.; Brüggenwirth, Hennie T.; Callewaert, Bert; Chiang, Colby; Corning, Ken; Cox, Helen; Hanson-Kahn, Andrea; Cuppen, Edwin; Currall, Benjamin B.; Cushing, Tom; David, Dezső; Deardorff, Matthew A.; Dheedene, Annelies; D'Hooghe, MarcarticleembargoedAccess
Nov-2016Cancer-specific mutations in p53 induce the translation of Δ160p53 promoting tumorigenesisCandeias, Marco; Hagiwara, Masatoshi; Matsuda, MichiyukiarticleembargoedAccess
2-Dez-2016More than just scanning: the importance of cap-independent mRNA translation initiation for cellular stress response and cancerLacerda, Rafaela; Menezes, Juliane; Romão, LuísaarticleembargoedAccess
25-Nov-2016Molecular characterization of a rare analphoid supernumerary marker chromosome derived from 7q35 → qter: a case reportMarques, Bárbara; Ferreira, Cristina; Brito, Filomena; Pedro, Sónia; Alves, Cristina; Lourenço, Teresa; Amorim, Marta; Correia, HildebertoarticleopenAccess
Abr-2016Inborn Errors of Metabolism: From Neonatal Screening to Metabolic Pathways: Book reviewAmaral, OlgacontributionToPeriodicalrestrictedAccess
11-Out-2016Challenges in risk assessment of multiple mycotoxins in foodAssunção, Ricardo; Silva, M.J.; Alvito, PaulaarticleopenAccess
4-Jul-2016Less Is More: Substrate Reduction Therapy for Lysosomal Storage DisordersCoutinho, Maria; Santos, Juliana; Alves, SandraarticleopenAccess
Items da Coleção (Ordenados por Data de depósito em ordem descendente): 1 até 20 de 275