Repositório Científico do Instituto Nacional de Saúde: Browsing DSpace

Issue Date	Title	Author(s)
Nov-2005	Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries	Lugowska, A.; Amaral, O.; Berger, J.; Berna, L.; Bosshard, N.; Chabas, A.; Fensom, A.; Gieselmann, V.; Gorovenko, N.; Lissens, W.; Mansson, J.; Marcao, A.; Michelakakis, H.; Bernheimer, H.; Ol'khovych, N.; Regis, S.; Sinke, R.; Tylki-Szymanska, A.; Czartoryska, B.
2007	Mutation spectrum of Gaucher disease in Tunisia: high frequency of N370S/Rec NciI compound heterozygous	Cherif, W.; Ben Turkia, H.; Tebib, N.; Amaral, O.; Ben Rhouma, F.; Abdelmoula MS, M.S.; Azzouz, H.; Caillaud, C.; Sà Miranda, M.C.; Abdelhak, S.; Ben Dridi, M.F.
Jan-2011	NanoLINEN: Nanotoxicology Link Between India and European Nations	Dhawan, Alok; Shanker, Rishi; Laffon, Blanca; Tajes, Juan Fernandez; Fuchs, Dietmar; van der Laan, Gert; van Broekhuizen, Pieter; Becker, Heidi; Moriske, Heinz-Jorn; Teixeira, Joao P.F; Carriere, Marie; Herlin-Boime, Nathalie; Engin, Ayse Basak; Coskun, Erdem; Karahalil, Bensu
Nov-2006	Natural polymorphisms of HIV type 2 pol sequences from drug-naive individuals	Parreira, R.; Monteiro, F.; Pádua, E.; Piedade, J.; Venenno, T.; Paixão, M.T.; Esteves, A.
May-2003	Natural variation of the nef gene in human immunodeficiency virus type 2 infections in Portugal	Pádua, E.; Jenkins, A.; Brown, S.; Bootman, J.; Paixão, M.T.; Almond, N.; Berry, N.
May-2011	New Approaches in the Molecular Diagnosis and Population Carrier Screening for Spinal Muscular Atrophy	Gonçalves-Rocha, Miguel; Oliveira, Jorge; Rodrigues, Luísa; Santos, Rosário
18-Nov-2010	New Delhi metallo-beta-lactamase 1-producing Enterobacteriaceae: emergence and response in Europe	Struelens, M. J.; Monnet, D. L.; Magiorakos, A. P.; O’Connor, F. Santos; Giesecke, J .; The European NDM-1 Survey Participants
21-Mar-2012	A new function of ROD1 in nonsense-mediated mRNA decay	Brazão, Tiago França; Demmers, J.; van IJcken, W.; Strouboulis, J.; Fornerod, M.; Romão, Luísa; Grosveld, F.G.
Nov-2010	New nutritional data on traditional foods for European food composition databases	Costa, H.S.; Vasilopoulou, E.; Trichopoulou, A.; Finglas, P.; Participants of EuroFIR Traditional Foods Work Package
May-2010	New polymorphic microsatellite markers able to distinguish among Candida parapsilosis sensu stricto isolates	Sabino, Raquel; Sampaio, Paula; Rosado, Laura; Stevens, David A.; Clemons, Karl V.; Pais, Célia
Jun-2001	Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations	Ribeiro, Isaura; Marcao, Ana; Amaral, Olga; Sá Miranda, M.C,; Vanier, M.T,; Millat, Gilles
Jun-2012	No ocular involvement in familial amyloidotic polyneuropathy ATTR V30M domino liver recipients	Melo Beirão, J.; Matos, E.; Beirão, I.; Costa, P.; Torres, P.
Sep-2010	Normalization strategies for real-time expression data in Chlamydia trachomatis	Borges, V.; Ferreira, R.; Nunes, A.; Nogueira, P.; Borrego, M.J.; Gomes, J.P.
Jul-2012	"No Trilho da Negligência…” Configurações Exploratórias de Violência Contra Pessoas Idosas	Gil, Ana Paula; Fernandes, Ana Alexandre
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
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
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)
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

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