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Browsing by Author Amaral, Olga

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Issue DateTitleAuthor(s)
5-Sep-2012CHIT1 genetic defects in the Portuguese populationDuarte, Ana; Ribeiro, Diogo; Amaral, Olga
27-Sep-2013Diagnóstico pré-natal: presente e futuroAmaral, Olga; Rocha, Hugo; Marques, Bárbara; Ferreira, Cristina; Duarte, Ana
Dec-1997Distinct Haplotype in Non-Ashkenazi Gaucher Patients with N370S MutationAmaral, Olga; Marcao, Ana; Pinto, Eugénia; Zimran, Ari; Sá Miranda, M.C.
17-May-2012Doenças MetabólicasAmaral, Olga
3-Apr-2013Efficient IDUA Gene Mutation Detection with Combined Use of dHPLC and Dried Blood SamplesRibeiro, Diogo; Cardoso, Ana; Duarte, Ana Joana; Vieira, Luís; Amaral, Olga
Dec-2010Estudo molecular de Epilepsia Mioclónica Progressiva de Unverritch -LundborgAmaral, Olga; Santos, Manuel; Pinto, Eugénia
12-Mar-2013Genética 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-2012Genetic Variation in a Common BiomarkerDuarte, Ana J; Ribeiro, Diogo; Amaral, Olga
24-Oct-2013Genetic variation in a gene involved in glycosphingolipid lipid biosynthesisAmaral, Olga; Duarte, Ana Joana; Pinto, Eugenia; Ribeiro, I.; Lopes, Lurdes; Ribeiro, Diogo
Nov-2011Genetic variation in CHIT 1Duarte, Ana; Ribeiro, Diogo; Amaral, Olga
Mar-2008Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian PeninsulaMangas, 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-2011New splicing mutation in the cystatin B geneAmaral, Olga; Freitas, Joel; Pinto, Eugénia; Duarte, Ana Joana; Ribeiro, Isaura; Ribeiro, Diogo; Chaves, João
Jun-2001Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterationsRibeiro, Isaura; Marcao, Ana; Amaral, Olga; Sá Miranda, M.C,; Vanier, M.T,; Millat, Gilles
Mar-2012Os nossos micromundosAmaral, Olga
23-Nov-2012Reversing the effect of the IDUA GENE W402X mutation?Ribeiro, Diogo; Amaral, Olga
21-Mar-2013Study of cellular localization of Cystatin B in Unverricht-Lundborg diseaseDuarte, Ana Joana; Ribeiro, Diogo; Chaves, Joao; Amaral, Olga
1996Type 1 Gaucher Disease: Identification of and Prevalence of Glucocerebrosidase Mutations in the PortugueseAmaral, Olga; Pinto, Eugénia; Fortuna, Margarida; La cerda, Lucia; Sá Miranda, M.C.
Oct-2013Unverricht-Lundborg disease: development of splicing therapeutic approaches for a patient with an homozygous mutation in the cystatin B gene9th Annual Meeting of the Oligonucleotide Therapeutics Society; Matos, Liliana; Duarte, Ana Joana; Jordan, Peter; Prata, Maria João; Chaves, João; Amaral, Olga; Alves, Sandra
Dec-2011Unverricht-Lundborg disease: Homozygosity for a new splicing mutation in the cystatin B genePinto, Eugenia; Freitas, Joel; Duarte, Ana Joana; Ribeiro, Isaura; Lima, JL; Chaves, Joao; Amaral, Olga
Aug-2011Unverricht–lundborg disease: report of a new mutationFreitas, Joel; Pinto, Eugénia; Duarte, A.J.; Amaral, Olga; Chaves, Joao; Lopes-Lima, J.
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