Percorrer por autor Laranjeira, Francisco

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DataTítuloAutor(es)TipoAcesso
Dez-2015Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS IIMatos, Liliana; Gonçalves, Vânia; Pinto, Eugénia; Laranjeira, Francisco; Prata, Maria João; Jordan, Peter; Desviat, Lourdes R.; Pérez, Belén; Alves, SandraarticleopenAccess
Dez-2015Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS IIMatos, Liliana; Gonçalves, Vânia; Pinto, Eugénia; Laranjeira, Francisco; Prata, Maria João; Jordan, Peter; Desviat, Lourdes R.; Perez, Belén; Alves, SandraarticleopenAccess
Mar-2013Mucopolysaccharidosis type III in PortugalCaseiro, Carla; Rocha, Sónia; Ferreira, Célia; Ribeiro, Helena; Pinto, Eugénia; Pinto, Fernanda; Sousa, Domingos; Pinto, Eugénia; Ribeiro, Isaura; Laranjeira, Francisco; Coutinho, Maria Francisca; Alves, Sandra; Lacerda, LúciaconferenceObjectrestrictedAccess
Set-2013SCARB2 mutations as modifiers in Gaucher disease: the wrong enzyme at the wrong placeCoutinho, Maria Francisca; Lacerda, Lúcia; Gaspar, Ana; Pinto, Eugénia; Ribeiro, Isaura; Laranjeira, Francisco; Ribeiro, Helena; Silva, Elizabete; Ferreira, Célia; Prata, Maria João; Alves, SandraconferenceObjectrestrictedAccess
21-Out-2016Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/betaCoutinho, Maria Francisca; Encarnação, Marisa; Laranjeira, Francisco; Lacerda, Lúcia; Prata, Maria João; Alves, SandraarticleopenAccess