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Repositório Científico do Instituto Nacional de Saúde >
Browsing by Author Amaral, Olga
Showing results 17 to 25 of 25
| Issue Date | Title | Author(s) | | 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 |
| 21-Mar-2013 | Study of cellular localization of Cystatin B in Unverricht-Lundborg disease | Duarte, Ana Joana; Ribeiro, Diogo; Chaves, Joao; 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. |
| Oct-2013 | Unverricht-Lundborg disease: development of splicing therapeutic approaches for a patient with an homozygous mutation in the cystatin B gene | 9th Annual Meeting of the Oligonucleotide Therapeutics Society; Matos, Liliana; Duarte, Ana Joana; Jordan, Peter; Prata, Maria João; Chaves, João; Amaral, Olga; Alves, Sandra |
| 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 17 to 25 of 25
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