Mostrar resultados 27-39 de 39.
< anterior
| 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 | |
