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Repositório Científico do Instituto Nacional de Saúde >
Browsing by Author Lima, Margarida Reis
Showing results 1 to 3 of 3
| Issue Date | Title | Author(s) | | Nov-2010 | Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome | Oliveira, Jorge; Dias, Cristina; Redeker, Egbert; Costa, Eurico; Silva, João; Lima, Margarida Reis; Den Dunnen, Johan T.; Santos, Rosário |
| Jul-2009 | Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations | Encarnação, Marisa; Lacerda, Lúcia; Costa, Roberto; Prata, Maria João; Coutinho, Maria Francisca; Ribeiro, Helena; Lopes, Lurdes; Pineda, M.; Ignatius, J.; Galvez, H.; Mustonen, A.; Vieira, P.; Lima, Margarida Reis; Alves, Sandra |
| Apr-2010 | The use of prealbumin concentration as a biomarker of nutritional status in treated phenylketonuric patients | Rocha, Júlio César; Almeida, Manuela Ferreira; Carmona, Carla; Cardoso, Maria Luís; Borges, Nuno; Soares, Isabel; Salcedo, Graça; Lima, Margarida Reis; Azevedo, Isabel; Van Spronsen, Francjan J. |
Showing results 1 to 3 of 3
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