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Repositório Científico do Instituto Nacional de Saúde >
Browsing by Subject Genetic Disease
Showing results 1 to 9 of 9
| Issue Date | Title | Author(s) | | Dec-1997 | Distinct Haplotype in Non-Ashkenazi Gaucher Patients with N370S Mutation | Amaral, Olga; Marcao, Ana; Pinto, Eugénia; Zimran, Ari; Sá Miranda, M.C. |
| Nov-2011 | Genetic variation in CHIT 1 | Duarte, Ana; Ribeiro, Diogo; Amaral, Olga |
| 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 |
| 8-Oct-2012 | Public Health Genomics | Lavinha, João |
| 26-Oct-2012 | Sickle cell disease severity scoring: a yet unsolved problem | Coelho, Andreia; Dias, Alexandra; Morais, Anabela; Nunes, Baltazar; Faustino, Paula; Lavinha, João |
| 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. |
| 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 1 to 9 of 9
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