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Repositório Científico do Instituto Nacional de Saúde >
Browsing by Author Dias, Cristina
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 |
| Aug-2010 | Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51 | Santos, Rosário; Oliveira, Jorge; Vieira, Emília; Coelho, Teresa; Carneiro, António Leite; Evangelista, Teresinha; Dias, Cristina; Fortuna, Ana; Geraldo, Argemiro; Negrão, Luís; Guimarães, António; Bronze-da-Rocha, Elsa |
| Jul-2011 | Tricho-rhino-phalangeal syndrome type I as a “cis-ruption disorder” caused by a translocation | Marques, Bárbara; Ferreira, Cristina; Araújo, Carlos; Vieira, Luis; Martins, Márcia; Pinto, Maximina; Dias, Cristina; David, Dezső |
Showing results 1 to 3 of 3
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