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Issue DateTitleAuthor(s)
16-Oct-2013Gastroenterite aguda em crianças internadas na área de LisboaEscobar, Carlos Gil; Silva, Tiago; Costa, Beatriz; Oliveira, Marisa; Correia, Paula; Ferreira, Gonçalo Cordeiro; Costa, Inês; Júlio, Cláudia; Rodrigues, João; Machado, Jorge; Marques, Adelaide; Simões, Maria João; Oleastro, Mónica; Brito, Maria João
Feb-2000Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patientsAmaral, O.; Marcão, A.; Sá Miranda, M.; Desnick, R.J.; Grace, M.E.
Sep-2009Gaucher disease in Tunisia: High frequency of the most common mutationsCherif, W.; Ben Turkia, H.; Ben Rhouma, F.; Riahi, I.; Chemli, J.; Kefi, R.; Messai, H.; Amaral, O.; Miranda, M.C.; Caillaud, C.; Tebib, N.; Ben Dridi, M.F.; Abdelhak, S.
Jun-2000Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutationsDiaz, G.A.; Gelb, B.D.; Risch, N.; Nygaard, T.G.; Frisch, A.; Cohen, I.J.; Miranda, C.S.; Amaral, O.; Maire, I.; Poenaru, L.; Caillaud, C.; Weizberg, M.; Mistry, P.; Desnick, R.J.
8-Aug-2013Gene expression regulation by upstream open reading frames and human diseaseBarbosa, Cristina; Peixeiro, Isabel; Romão, Luísa
27-Apr-2011Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disordersAnney, R.J.; Kenny, E.M.; O'Dushlaine, C.; Parkhomenka, E.; Buxbaum, J.D.; Sutcliffe, J.; Gill, M.; Gallagher, L.; Bailey, A.J.; Fernandez, B.A.; Szatmari, P.; Scherer, S.W.; Patterson, A.; Marshall, C.R.; Pinto, D.; Vincent, J.B.; Fombonne, E.; Betancur, C.; Delorme, R.; Leboyer, M.; Bourgeron, T.; Mantoulan, C.; Roge, B.; Tauber, M.; Freitag, C.M.; Poustka, F.; Duketis, E.; Klauck, S.M.; Poustka, A.; Papanikolaou, K.; Tsiantis, J.; Gallagher, L.; Gill, M.; Anney, R.; Bolshakova, N.; Brennan, S.; Hughes, G.; McGrath, J.; Merikangas, A.; Ennis, S.; Green, A.; Casey, J.P.; Conroy, J.M.; Regan, R.; Shah, N.; Maestrini, E.; Bacchelli, E.; Minopoli, F.; Stoppioni, V.; Battaglia, A.; Igliozzi, R.; Parrini, B.; Tancredi, R.; Oliveira, G.; Almeida, J.; Duque, F.; Vicente, A.; Correia, C.; Magalhaes, T.R.; Gillberg, C.; Nygren, G.; Jonge, M.D.; Van Engeland, H.; Vorstman, J.A.; Wittemeyer, K.; Baird, G.; Bolton, P.F; Rutter, M.L.; Green, J.; Lamb, J.A.; Pickles, A.; Parr, J.R.; Couteur, A.L.; Berney, T.; McConachie, H.; Wallace, S.; Coutanche, M.; Foley, S.; White, K.; Monaco, A.P.; Holt, R.; Farrar, P.; Pagnamenta, A.T.; Mirza, G.K.; Ragoussis, J.; Sousa, I.; Sykes, N.; Wing, K.; Hallmayer, J.; Cantor, R.M.; Nelson, S.F.; Geschwind, D.H.; Abrahams, B.S.; Volkmar, F.; Pericak-Vance, M.A.; Cuccaro, M.L.; Gilbert, J.; Cook, E.H.; Guter, S.J.; Jacob, S.; Nurnberger Jr, J.I.; McDougle, C.J.; Posey, D.J.; Lord, C.; Corsello, C.; Hus, V.; Buxbaum, J.D.; Kolevzon, A.; Soorya, L.; Parkhomenko, E.; Leventhal, B.L.; Dawson, G.; Vieland, V.J.; Hakonarson, H.; Glessner, J.T.; Kim, C.; Wang, K.; Schellenberg, G.D.; Devlin, B.; Klei, L.; Minshew, N.; Sutcliffe, J.S.; Haines, J.L.; Lund, S.C.; Thomson, S.; Yaspan, B.L.; Coon, H.; Miller, J.; McMahon, W.M.; Munson, J.; Estes, A.; Wijsman, EM.; The Autism Genome Project
Sep-2005Genetic analysis of human immunodeficiency virus type 1 nef in portugal: Subtyping, identification of mosaic genes, and amino acid sequence variabilityParreira, R.; Pádua, E.; Piedade, J.; Venenno, T.; Paixão, M. T.; Esteves, A.
17-Oct-2013Genetic and biochemical markers in patients with Alzheimer's disease support a concerted systemic iron homeostasis dysregulationCrespo, A.C.; Silva, B.; Marques, L.; Marcelino, E.; Maruta, C.; Costa, S.; Timóteo, A.; Vilares, A.; Couto, F.S.; Faustino, P.; Correia, A.P.; Verdelho, A.; Porto, G.; Guerreiro, M.; Herrero, A.; Costa, C.; de Mendonça, A.; Costa, L.; Martins, M.
9-Feb-2012Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum DisordersLeblond, C.S.; Heinrich, J.; Delorme, R.; Proepper, C.; Betancur, C.; Huguet, G.; Konyukh, M.; Chaste, P.; Ey, E.; Rastam, M.; Anckarsäter, H.; Nygren, G.; Gillberg, I.C.; Melke, J.; Toro, R.; Regnault, B.; Fauchereau, F.; Mercati, O.; Lemière, N.; Skuse, D.; Poot, M.; Holt, R.; Monaco, A.P.; Järvelä, I.; Kantojärvi, K.; Vanhala, R.; Curran, S.; Collier, D.A.; Bolton, P.; Chiocchetti, A; Klauck, S.M.; Poustka, F.; Freitag, C.M.; Waltes, R.; Kopp, M.; Duketis, E.; Bacchelli, E.; Minopoli, F.; Ruta, L.; Battaglia, A.; Mazzone, L.; Maestrini, E.; Sequeira, A.F.; Oliveira, B.; Vicente, A.; Oliveira, G.; Pinto, D.; Scherer, S.W.; Zelenika, D.; Delepine, M.; Lathrop, M.; Bonneau, D.; Guinchat, V.; Devillard, F.; Assouline, B.; Mouren, M.C.; Leboyer, M.; Gillberg, C.; Boeckers, T.M.
18-Jul-2012Genetic characterization of Bhanja virus and Palma virus, two tick-borne phlebovirusesDilcher, M.; Alves, M.J.; Finkeisen, D.; Hufert, F.; Weidmann, M.
Sep-2011Genetic defects in Portuguese families with inherited protein C deficiencyDavid, Dezso; Ferreira, Cristina; Ventura, Célia; Freire, Isabel; Moreira, Isabel; Gago, Teresa
May-2009Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutationsBourbon, M.; Duarte, M.A.; Alves, A.C.; Medeiros, A.M.; Marques, L.; Soutar, A.K.
2010Genetic dissection of the AZF regions of the human Y chromosome: thriller or filler for male (in)fertility?Navarro-Costa, Paulo; Plancha, Carlos E.; Gonçalves, João
Nov-2012Genetic diversity and clonal evolution of carbapenem-resistant Acinetobacter baumannii isolates from Portugal and the dissemination of ST118Manageiro, Vera; Jones-Dias, Daniela; Ferreira, Eugénia; Louro, Deolinda; Antimicrobial Resistance Surveillance Program in Portugal (ARSIP); Caniça, Manuela
1-Mar-2013Genetic diversity, antibiotic resistance and biofilm-forming ability of Arcobacter butzleri isolated from poultry and environment from a Portuguese slaughterhouseFerreira, Susana; Fraqueza, Maria João; Queiroz, João; Domingues, Fernanda; Oleastro, Mónica
Dec-2008Genetic factors and cardiovascular diseaseBourbon, M.
28-Aug-2013Genetic relationship between five psychiatric disorders estimated from genome-wide SNPsCross-Disorder Group of the Psychiatric Genomics Consortium; International Inflammatory Bowel Disease Genetics Consortium (IIBDGC)
5-Oct-2012Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studiesTraylor, M.; Farrall, M.; Holliday, E.G.; Sudlow, C.; Hopewell, J.C.; Cheng, Y.C.; Fornage, M.; Ikram, M.A.; Malik, R.; Bevan, S.; Thorsteinsdottir, U.; Nalls, M.A.; Longstreth, W.; Wiggins, K.L.; Yadav, S.; Parati, E.A.; Destefano, A.L.; Worrall, B.B.; Kittner, S.J.; Khan, M.S.; Reiner, A.P.; Helgadottir, A.; Achterberg, S.; Fernandez-Cadenas, I.; Abboud, S.; Schmidt, R.; Walters, M.; Chen, W.M.; Ringelstein, E.B.; O'Donnell, M.; Ho, W.K.; Pera, J.; Lemmens, R.; Norrving, B.; Higgins, P.; Benn, M.; Sale, M.; Kuhlenbäumer, G.; Doney, A.S.; Vicente, A.M.; Delavaran, H.; Algra, A.; Davies, G.; Oliveira, S.A.; Palmer, C.N.; Deary, I.; Schmidt, H.; Pandolfo, M.; Montaner, J.; Carty, C.; de Bakker, P.I.; Kostulas, K.; Ferro, J.M.; van Zuydam, N.R,; Valdimarsson, E.; Nordestgaard, B.G.; Lindgren, A.; Thijs, V.; Slowik, A.; Saleheen, D.; Paré, G.; Berger, K.; Thorleifsson, G.; Australian Stroke Genetics Collaborative, Wellcome Trust Case Control Consortium 2 (WTCCC2); Hofman, A.; Mosley, T.H.; Mitchell, B.D.; Furie, K.; Clarke, R.; Levi, C.; Seshadri, S.; Gschwendtner, A.; Boncoraglio, G.B.; Sharma, P.; Bis, J.C.; Gretarsdottir, S.; Psaty, B.M.; Rothwell, P.M.; Rosand, J.; Meschia, J.F.; Stefansson, K.; Dichgans, M.; Markus, H.S.; International Stroke Genetics Consortium.
Feb-2014Genetic variation at the CYP2C19 gene associated with metabolic syndrome susceptibility in a South Portuguese population: results from the pilot study of the European Health Examination Survey in PortugalGaio, Vania; Nunes, Baltazar; Fernandes, Aida; Mendonça, Francisco; Horta Correia, Filomena; Beleza, Álvaro; Gil, Ana Paula; Bourbon, Mafalda; Vicente, Astrid; Matias Dias, Carlos; Barreto da Silva, Marta
28-Nov-2013Genetic variation in CD36, HBA, NOS3 and VCAM1 is associated with chronic haemolysis level in sickle cell anaemia: a longitudinal studyCoelho, Andreia; Dias, Alexandra; Morais, Anabela; Nunes, Baltazar; Ferreira, Emanuel; Picanço, Isabel; Faustino, Paula; Lavinha, João
Showing results 254 to 273 of 713
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