Percorrer por autor Coutinho, Maria Francisca

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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
Nov-2012A shortcut to the lysosome: the mannose-6-phosphate independent pathwayCoutinho, Maria Francisca; Prata, Maria João; Alves, SandraarticlerestrictedAccess
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
Nov-2011Sortilin/Neurotensin Receptor 3: Three-dimensional Insights on its Coding VariantsCoutinho, Maria Francisca; da Silva Santos, Liliana; Lacerda, Lúcia; Macedo-Ribeiro, Sandra; Prata, Maria João; Alves, SandraconferenceObjectrestrictedAccess
Out-2013Sortilina e risco de doença cardiovascularCoutinho, Maria Francisca; Bourbon, Mafalda; Prata, Maria João; Alves, SandraarticleopenAccess
Fev-2015The role of the Mannose 6-Phosphate recognition marker in Lysosomal Function and DysfunctionCoutinho, Maria Francisca; Alves, SandraconferenceObjectrestrictedAccess
19-Jan-2017Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutationsOuesleti, Souad; Coutinho, Maria Francisca; Ribeiro, Isaura; Miled, Abdehedi; Mosbahi, Dalila Saidane; Alves, SandraarticleembargoedAccess
Set-2017Use of an antisense-mediated exon skipping approach as a therapeutic option for a common Mucolipidosis type II causing mutationMatos, Liliana; Vilela, Regina; Coutinho, Maria Francisca; Gaspar, Paulo; Alves, SandraconferenceObjectopenAccess