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Repositório Científico do Instituto Nacional de Saúde >
Browsing by Author Duarte, Ana Joana
Showing results 1 to 5 of 5
| Issue Date | Title | Author(s) | | Sep-2011 | Allelic frequency of CHIT1 variants in the Portuguese population | Duarte, Ana Joana; Ribeiro, Diogo; Amaral, Olga |
| 3-Apr-2013 | Efficient IDUA Gene Mutation Detection with Combined Use of dHPLC and Dried Blood Samples | Ribeiro, Diogo; Cardoso, Ana; Duarte, Ana Joana; Vieira, Luís; 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 |
| 21-Mar-2013 | Study of cellular localization of Cystatin B in Unverricht-Lundborg disease | Duarte, Ana Joana; Ribeiro, Diogo; Chaves, Joao; Amaral, Olga |
| 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 |
Showing results 1 to 5 of 5
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