Repositório Científico do Instituto Nacional de Saúde: Browsing DSpace

Issue Date	Title	Author(s)
May-2011	Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America	Vernengo, Luis; Oliveira, Jorge; Krahn, Martin; Vieira, Emília; Santos, Rosário; Carrasco, Luisa; Negrão, Luis; Panuncio, Ana; Leturcq, France; Labelle, Veronique; Bronze-da-Rocha, Elsa; Mesa, Rosário; Pizzarossa, Carlos; Lévy, Nicolas; Rodriguez, Maria-Mirta
Nov-2011	Novel and rare large deletions in the globin gene clusters causing different types of thalassemia	Coelho, Andreia; Fernandes, Emília; Batalha-Reis, Ana; Sonesson, Annika; Picanço, Isabel; Miranda, Armandina; Faustino, Paula
14-Oct-2011	A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder	Casey, J.P.; Magalhaes, T.; Conroy, J.M.; Regan, R.; Shah, N.; Anney, R.; Shields, D.C.; Abrahams, B.S.; Almeida, J.; Bacchelli, E.; Bailey, A.J.; Wittemeyer, K.; Yaspan, B.L.; Zwaigenbaum, L.; Betancur, C.; Buxbaum, J.D.; Cantor, R.M.; Cook, E.H.; Coon, H.; Cuccaro, M.L.; Geschwind, D.H.; Baird, G.; Haines, J.L.; Hallmayer, J.; Monaco, A.P.; Nurnberger, J.I. Jr; Pericak-Vance, M.A.; Schellenberg, G.D.; Scherer, S.W.; Sutcliffe, J.S.; Szatmari, P.; Vieland, V.J.; Battaglia, A.; Wijsman, E.M.; Green, A.; Gill, M.; Gallagher, L.; Vicente, A.; Ennis, S.; Berney, T.; Bolshakova, N.; Bolton, P.F.; Bourgeron, T.; Brennan, S.; Cali, P.; Correia, C.; Corsello, C.; Coutanche, M.; Dawson, G.; de Jonge, M.; Delorme, R.; Duketis, E.; Duque, F.; Estes, A.; Farrar, P.; Fernandez, B.A.; Folstein, S.E.; Foley, S.; Fombonne, E.; Freitag, C.M.; Gilbert, J.; Gillberg, C.; Glessner, J.T.; Green, J.; Guter, S.J.; Hakonarson, H.; Holt, R.; Hughes, G.; Hus, V.; Igliozzi, R.; Kim, C.; Klauck, S.M.; Kolevzon, A.; Lamb, J.A.; Leboyer, M.; Le Couteur, A.; Leventhal, B.L.; Lord, C.; Lund, S.C.; Maestrini, E.; Mantoulan, C.; Marshall, C.R.; McConachie, H.; McDougle, C.J.; McGrath, J.; McMahon, W.M.; Merikangas, A.; Miller, J.; Minopoli, F.; Mirza, G.K.; Munson, J.; Nelson, S.F.; Nygren, G.; Oliveira, G.; Pagnamenta, A.T.; Papanikolaou, K.; Parr, J.R.; Parrini, B.; Pickles, A.; Pinto, D.; Piven, J.; Posey, D.J.; Poustka, A.; Poustka, F.; Ragoussis, J.; Roge, B.; Rutter, M.L.; Sequeira, A.F.; Soorya, L.; Sousa, I.; Sykes, N.; Stoppioni, V.; Tancredi, R.; Tauber, M.; Thompson, A.P.; Thomson, S.; Tsiantis, J.; Van Engeland, H.; Vincent, J.B.; Volkmar, F.; Vorstman, J.A.; Wallace, S.; Wang, K.; Wassink, T.H.; White, K.; Wing, K.
Jun-2012	A novel de novo deletion of chromosome 7 [46,XX,del(7)(p14.2 p15.1)] in a child with feeding problems	Antunes, Henedina; Gonçalves, Jean-Pierre; Esmeralda, Silva; Oliva Teles, Natália
Apr-2011	A novel large alpha zero-thalassemia deletion found in a Portuguese 32 years old woman	Reis, Ana; Coelho, Andreia; Faustino, Paula; Reichert, Alice; Meireles, Flora; Brito, Ana; Miranda, Armandina; Matos, Susana; Júnior, Esmeraldina
15-Aug-2010	Novel large deletions in the human alpha-globin gene cluster: Clarifying the HS-40 long-range regulatory role in the native chromosome environment	Coelho, Andreia; Isabel, Picanço; Filomena, Seuanes; Seixas, Maria Teresa; Paula, Faustino
Jun-2011	Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism	Vieland, V.J.; Hallmayer, J.; Huang, Y.; Pagnamenta, A.T.; Pinto, D.; Khan, H.; Monaco, A.P.; Paterson, A.D.; Scherer, S.W.; Sutcliffe, J.S.; Szatmari, P.; The Autism Genome Project (AGP)
Jun-2010	Novel method for picking up large heterozygous deletions with semiquantitative PCR in patients with mucolipidosis III alpha/beta	Coutinho, Maria Francisca; Encarnação, Marisa; Lacerda, Lúcia; Ribeiro, Helena; Prata, Maria João; Alves, Sandra
Nov-2012	A novel missense mutation in SUCLA2 associated with mild methylmalonic aciduria	Nogueira, Célia; Garcia, Paula; Diogo, Luisa; Valongo, Carla; Santorelli, Filippo; Vilarinho, Laura
15-Aug-2010	A novel molecular method for identification of Oenococcus oeni and its specific detection in wine	Marques, Ana P.; Zé-Zé, Líbia; San-Romão, Maria Vitória; Tenreiro, Rogério
29-Mar-2004	Novel point mutation in exon 12 of the glucose-6- phosphate dehydrogenase gene: G6PD FLORES	Rodrigues, M.O.; Pereira, J.D.; Gaspar, G.; Olim, G.; Martins, M.C.; Monteiro, C.
Jan-2011	Um novo mecanismo molecular para a regulação do transportador de glicose GLUT1	Mendes, A.I.; Matos, P.; Moniz, S.; Jordan, P.
8-Sep-2012	Nowcasting influenza epidemics using a sentinel network based influenza surveillance system	Nunes, Baltazar; Natário, Isabel; Carvalho, Maria Lucília
5-Nov-2012	Nowcasting influenza epidemics using non-homogeneous hidden Markov models	Nunes, Baltazar; Natário, Isabel; Carvalho, Maria Lucília
2012	Nuclear-Mitochondrial Intergenomic Communication Disorders	Almeida, L.S.; Nogueira, C.; Vilarinho, L.
7-Sep-2011	Nutraceuticals: a new therapeutic approach against	Santos, António Mário; Oleastro, Mónica; Vale de Gato, Inês; Lopes, Teresa; Seixas, Elsa; Machado, Jorge; Guerreiro, António Sousa
2011	Nutritional Composition of Freshly Harvested and Stored Latvian Potato (Solanum tuberosum L.) Varieties Depending on Traditional Cooking Methods	Murniece, I.; Karklina, D.; Galoburda, R.; Santare, D.; Skrabule, I.; Costa, H.S.
27-Oct-2011	Nutritional composition of traditional foods from Black Sea Area countries	Costa, H.S.; Albuquerque, T.G.; Sanches-Silva, A.; Vasilopoulou, E.; Trichopoulou, A.; Alexieva, I.; Costea, C.; Fedosova, K.; Hayran, O.; Kilasonia, Z.; Kolesnov, A.; Koval, N.V.; D’Antuono, F.; Finglas, P.
Feb-2012	Nutritional data on selected traditional foods from BSAC	Costa, H.S.; Albuquerque, T.G.; Sanches-Silva, A.; Finglas, P.
Sep-2012	Obesidade Infantil: O que contribui vs O que previne	Câmara, Gisele; Goes, Ana Rita; Bourbon, Mafalda; Nunes, Luís; Bragança, Graciete; Cargaleiro, Helena; Heitor, Maria João; Rito, Ana Isabel; Maia, Maria Teresa; Do Ó, Dulce; Gomes, José Carlos; Sardinha, Luís; Loureiro, Isabel

Showing results 939 to 958 of 1436

< previous next >

Financiado por: