Mostrar resultados 27-39 de 39.
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Data | Título | Autor(es) | Tipo | Acesso |
Set-2011 | New splicing mutation in the cystatin B gene | Amaral, Olga; Freitas, Joel; Pinto, Eugénia; Duarte, Ana Joana; Ribeiro, Isaura; Ribeiro, Diogo; Chaves, João | conferenceObject |  |
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 | article |  |
Mar-2012 | Os nossos micromundos | Amaral, Olga | other |  |
Jun-2017 | Rare diseases - Open your heart and keep an open mind | Amaral, Olga; Duarte, Joana | conferenceObject |  |
23-Nov-2012 | Reversing the effect of the IDUA GENE W402X mutation? | Ribeiro, Diogo; Amaral, Olga | conferenceObject |  |
21-Mar-2013 | Study of cellular localization of Cystatin B in Unverricht-Lundborg disease | Duarte, Ana Joana; Ribeiro, Diogo; Chaves, Joao; Amaral, Olga | conferenceObject |  |
Jun-2010 | Study of Mutation Impact on Lysosomal Proteins using Computational Analysis | Duarte, Ana Joana; Amaral, Olga | conferenceObject |  |
21-Fev-2017 | To CRISPR or not to CRISPR | Duarte, A.J.; Amaral, Olga; Bragança, José | conferenceObject |  |
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. | article |  |
28-Fev-2018 | Unfolding new perspectives: Rare Disease Day 2018 | Amaral, Olga | lecture |  |
Out-2013 | Unverricht-Lundborg disease: development of splicing therapeutic approaches for a patient with an homozygous mutation in the cystatin B gene | Matos, Liliana; Duarte, Ana Joana; Jordan, Peter; Prata, Maria João; Chaves, João; Amaral, Olga; Alves, Sandra | conferenceObject |  |
Dez-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 | article |  |
Ago-2011 | Unverricht–lundborg disease: report of a new mutation | Freitas, Joel; Pinto, Eugénia; Duarte, A.J.; Amaral, Olga; Chaves, Joao; Lopes-Lima, J. | conferenceObject |  |