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Repositório Científico do Instituto Nacional de Saúde >
Browsing by Author Amaral, Olga
Showing results 3 to 19 of 19
| Issue Date | Title | Author(s) | | Nov-2011 | Characterization of a comon IDUA in the Portuguese population | Ribeiro, Diogo; Duarte, Ana; Amaral, Olga |
| 5-Sep-2012 | CHIT1 genetic defects in the Portuguese population | Duarte, Ana; Ribeiro, Diogo; Amaral, Olga |
| Dec-1997 | Distinct Haplotype in Non-Ashkenazi Gaucher Patients with N370S Mutation | Amaral, Olga; Marcao, Ana; Pinto, Eugénia; Zimran, Ari; Sá Miranda, M.C. |
| 17-May-2012 | Doenças Metabólicas | Amaral, Olga |
| 3-Apr-2013 | Efficient IDUA Gene Mutation Detection with Combined Use of dHPLC and Dried Blood Samples | Ribeiro, Diogo; Cardoso, Ana; Duarte, Ana Joana; Vieira, Luís; Amaral, Olga |
| Dec-2010 | Estudo molecular de Epilepsia Mioclónica Progressiva de Unverritch -Lundborg | Amaral, Olga; Santos, Manuel; Pinto, Eugénia |
| 12-Mar-2013 | Genética e cérebro na "fábrica de perguntas" | Amaral, Olga; Alves, Sandra; Duarte, Ana; Ribeiro, Diogo; Rocha, Hugo; Coutinho, Francisca; Alves, Mariana; Moreira, Luciana; Matos, Liliana |
| Feb-2012 | Genetic Variation in a Common Biomarker | Duarte, Ana J; Ribeiro, Diogo; Amaral, Olga |
| Nov-2011 | Genetic variation in CHIT 1 | Duarte, Ana; Ribeiro, Diogo; Amaral, Olga |
| Mar-2008 | Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula | Mangas, Mariana; Nogueira, Célia; Prata, Maria João; Lacerda, Lúcia; Coll, M.J.; Soares, Gabriela; Ribeiro, Gil; Amaral, Olga; Ferreira, Célia; Alves, C.; Coutinho, Maria Francisca; Alves, Sandra |
| 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 |
| 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 |
| Mar-2012 | Os nossos micromundos | Amaral, Olga |
| 23-Nov-2012 | Reversing the effect of the IDUA GENE W402X mutation? | Ribeiro, Diogo; Amaral, Olga |
| 1996 | Type 1 Gaucher Disease: Identification of and Prevalence of Glucocerebrosidase Mutations in the Portuguese | Amaral, Olga; Pinto, Eugénia; Fortuna, Margarida; La cerda, Lucia; Sá Miranda, M.C. |
| Dec-2011 | Unverricht-Lundborg disease: Homozygosity for a new splicing mutation in the cystatin B gene | Pinto, Eugenia; Freitas, Joel; Duarte, Ana Joana; Ribeiro, Isaura; Lima, JL; Chaves, Joao; Amaral, Olga |
| Aug-2011 | Unverricht–lundborg disease: report of a new mutation | Freitas, Joel; Pinto, Eugénia; Duarte, A.J.; Amaral, Olga; Chaves, Joao; Lopes-Lima, J. |
Showing results 3 to 19 of 19
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