Percorrer por autor Amaral, Olga

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8-Nov-2017Gene editing in Lysosomal DiseasesDuarte, Ana Joana; Bragança, José; Coutinho, Francisca; Amaral, OlgaconferenceObjectopenAccess
3-Jul-2015Genetic diversity of Lysosomal Storage Disorders in PortugalAmaral, OlgalecturerestrictedAccess
Fev-2012Genetic Variation in a Common BiomarkerDuarte, Ana J; Ribeiro, Diogo; Amaral, OlgaconferenceObjectrestrictedAccess
24-Out-2013Genetic variation in a gene involved in glycosphingolipid lipid biosynthesisAmaral, Olga; Duarte, Ana Joana; Pinto, Eugenia; Ribeiro, I.; Lopes, Lurdes; Ribeiro, DiogoconferenceObjectclosedAccess
Nov-2011Genetic variation in CHIT 1Duarte, Ana; Ribeiro, Diogo; Amaral, OlgaconferenceObjectrestrictedAccess
12-Mar-2013Genética e cérebro na "fábrica de perguntas"Amaral, Olga; Alves, Sandra; Duarte, Ana; Ribeiro, Diogo; Rocha, Hugo; Coutinho, Francisca; Alves, Mariana; Moreira, Luciana; Matos, LilianaotheropenAccess
Abr-2016Inborn Errors of Metabolism: From Neonatal Screening to Metabolic Pathways: Book reviewAmaral, OlgacontributionToPeriodicalrestrictedAccess
Mai-2017Induced pluripotent stem cells as genetic disease modelsDuarte, Ana Joana; Bragança, José; Amaral, OlgaconferenceObjectopenAccess
Mai-2017inducing a new startDuarte, Ana Joana; Bragança, José; Amaral, OlgaconferenceObjectopenAccess
Mar-2008Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian PeninsulaMangas, Mariana; Nogueira, Célia; Prata, Maria João; Lacerda, Lúcia; Coll, M.J.; Soares, Gabriela; Ribeiro, Gil; Amaral, Olga; Ferreira, Célia; Alves, C.; Coutinho, Maria Francisca; Alves, SandraarticlerestrictedAccess
18-Set-2017Mutation frequency of three neurodegenerative lysosomal storage diseases: from screening to treatment?Amaral, Olga; Duarte, Ana Joana; Ribeiro, Diogo; Oliveira, PedroarticleembargoedAccess
Set-2011New splicing mutation in the cystatin B geneAmaral, Olga; Freitas, Joel; Pinto, Eugénia; Duarte, Ana Joana; Ribeiro, Isaura; Ribeiro, Diogo; Chaves, JoãoconferenceObjectrestrictedAccess
Jun-2001Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterationsRibeiro, Isaura; Marcao, Ana; Amaral, Olga; Sá Miranda, M.C,; Vanier, M.T,; Millat, GillesarticlerestrictedAccess
Mar-2012Os nossos micromundosAmaral, OlgaotherembargoedAccess (2 Years)
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
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
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