|
Repositório Científico do Instituto Nacional de Saúde >
Browsing by Author Ribeiro, Isaura
Showing results 2 to 4 of 4
| 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 |
| 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 2 to 4 of 4
|
