1. Repositório Científico do Instituto Nacional de Saúde

Percorrer por autor Amaral, Olga

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DataTítuloAutor(es)TipoAcesso
Jun-2017Rare diseases - Open your heart and keep an open mindAmaral, Olga; Duarte, JoanaconferenceObjectrestrictedAccess
23-Nov-2012Reversing the effect of the IDUA GENE W402X mutation?Ribeiro, Diogo; Amaral, OlgaconferenceObjectopenAccess
21-Mar-2013Study of cellular localization of Cystatin B in Unverricht-Lundborg diseaseDuarte, Ana Joana; Ribeiro, Diogo; Chaves, Joao; Amaral, OlgaconferenceObjectrestrictedAccess
Jun-2010Study of Mutation Impact on Lysosomal Proteins using Computational AnalysisDuarte, Ana Joana; Amaral, OlgaconferenceObjectrestrictedAccess
21-Fev-2017To CRISPR or not to CRISPRDuarte, A.J.; Amaral, Olga; Bragança, JoséconferenceObjectrestrictedAccess
1996Type 1 Gaucher Disease: Identification of and Prevalence of Glucocerebrosidase Mutations in the PortugueseAmaral, Olga; Pinto, Eugénia; Fortuna, Margarida; La cerda, Lucia; Sá Miranda, M.C.articlerestrictedAccess
28-Fev-2018Unfolding new perspectives: Rare Disease Day 2018Amaral, OlgalecturerestrictedAccess
Out-2013Unverricht-Lundborg disease: development of splicing therapeutic approaches for a patient with an homozygous mutation in the cystatin B geneMatos, Liliana; Duarte, Ana Joana; Jordan, Peter; Prata, Maria João; Chaves, João; Amaral, Olga; Alves, SandraconferenceObjectopenAccess
Dez-2011Unverricht-Lundborg disease: Homozygosity for a new splicing mutation in the cystatin B genePinto, Eugenia; Freitas, Joel; Duarte, Ana Joana; Ribeiro, Isaura; Lima, JL; Chaves, Joao; Amaral, OlgaarticlerestrictedAccess
Ago-2011Unverricht–lundborg disease: report of a new mutationFreitas, Joel; Pinto, Eugénia; Duarte, A.J.; Amaral, Olga; Chaves, Joao; Lopes-Lima, J.conferenceObjectopenAccess
Mostrar resultados 30-39 de 39. < anterior