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Repositório Científico do Instituto Nacional de Saúde >
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Showing results 908 to 927 of 1436
| 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. |
| 2-Feb-2011 | NANOGENOTOX: avaliação da segurança de nanomateriais através da caracterização do seu potencial efeito genotóxico | Silva, Maria João |
| 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 |
| 25-Oct-2012 | Nanomateriais Manufaturados- avaliação de efeitos genotóxicos e implicações para saúde pública | Louro, Henriqueta; Tavares, Ana; Antunes, Susana; Vicente, Ana Margarida; Silva, Maria João |
| 19-Oct-2011 | Nanosized Titanium Dioxide Particles: Evaluation of Genotoxic Effects in Human Lymphocytes | Tavares, Ana; Antunes, Susana; Louro, Henriqueta; Lavinha, João; Silva, Maria João |
| Aug-2011 | National Public Health Institutes: European perspective | Huttunen, Jussi; Puska, Pekka; Burger, Reinhard; McCracken, Justin; Miguel, Jose Pereira; Seljak, Marija; Stene-Larsen, Geir; Wilde, Jane; Wamala, Sarah |
| May-2012 | Necessidades energéticas em crianças | Rito, Ana Isabel; Carvalho, Maria Ana |
| 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. |
| Sep-2011 | New nutritional data on selected traditional foods from Black Sea area countries | Costa, H.S.; Albuquerque, T.G.; Sanches-Silva, A.; Vasilopoulou, E.; Trichopoulou, A.; D’Antuono, F.; Alexieva, I.; Boyko, N.; Fedosova, K.; Karpenko, D.; Kilasonia, Z.; Koçaoglu, B.; Stroia, A.L.; Finglas, P. |
| 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 |
| Sep-2011 | New splicing mutation in the cystatin B gene | Amaral, Olga; Freitas, Joel; Pinto, Eugénia; Duarte, Ana Joana; Ribeiro, Isaura; Ribeiro, Diogo; Chaves, João |
| Nov-2011 | Next-generation sequencing of LDLR and APOB genes in patients with a clinical diagnosis of Familial Hypercholesterolaemia | Alves, A.C.; Bourbon, M. |
| 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 |
| 1-Sep-2012 | Nonsense-mediated decay resistance of AUG-proximal nonsense-mutated transcripts relies on the interaction of PABPC1 with the translation initiation complex | Peixeiro, Isabel; Barbosa, Cristina; Romão, Luísa |
| 7-Sep-2011 | Nonsense-mediated decay resistance of AUG-proximal nonsense-mutated transcripts relies on the link between translation initiation and premature stop codon definition | Peixeiro, Isabel; Barbosa, Cristina; Silva, Ana Luísa; Romão, Luísa |
| 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. |
Showing results 908 to 927 of 1436
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