Percorrer por autor Ribeiro, Diogo

Índice: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
ou inserir as letras iniciais:  
Mostrar resultados 1-17 de 17.
Set-2011Allelic frequency of CHIT1 variants in the Portuguese populationDuarte, Ana Joana; Ribeiro, Diogo; Amaral, OlgaconferenceObjectrestrictedAccess
19-Dez-2014Cellular characterization of normal and mutant cystatin BDuarte, Ana Joana; Ribeiro, Diogo; Chaves, João; Amaral, OlgaconferenceObjectrestrictedAccess
Nov-2011Characterization of a comon IDUA in the Portuguese populationRibeiro, Diogo; Duarte, Ana; Amaral, OlgaconferenceObjectrestrictedAccess
Jul-2015Characterization of a rare Unverricht-Lundborg disease mutationDuarte, Ana Joana; Ribeiro, Diogo; Chaves, João; Amaral, Olgaarticleopen access
5-Set-2012CHIT1 genetic defects in the Portuguese populationDuarte, Ana; Ribeiro, Diogo; Amaral, OlgaarticlerestrictedAccess
Mar-2017Development of a Next-Generation Sequencing (NGS) Gene Panel for Lysosomal Storage DiseasesCoutinho, Maria Francisca; Encarnação, Marisa; Nogueira, Célia; Silva, Lisbeth; Ribeiro, Diogo; Alves, SandraconferenceObjectopenAccess
3-Abr-2013Efficient IDUA Gene Mutation Detection with Combined Use of dHPLC and Dried Blood SamplesRibeiro, Diogo; Cardoso, Ana; Duarte, Ana Joana; Vieira, Luís; Amaral, OlgaarticleopenAccess
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
11-Mar-2017Metabolic Diseases Masquerading As Primary Progressive Multiple SclerosisNogueira, Célia; Vilarinho, Laura; Ribeiro, Diogo; Alves, Sandra; Vieira, Luís; Sá, Maria José; Macário, Maria do Carmo; Silva, Ana; Sá, JoãoconferenceObjectopenAccess
18-Set-2017Mutation frequency of three neurodegenerative lysosomal storage diseases: from screening to treatment?Amaral, Olga; Duarte, Ana Joana; Ribeiro, Diogo; Oliveira, PedroarticleembargoedAccess
Nov-2017Neurodegenerative Lysosomal Diseases Approached by Next Generation SequencingEncarnação, Marisa; Coutinho, Maria Francisca; Silva, Lisbeth; Ribeiro, Diogo; Nogueira, Célia; Vilarinho, Laura; Alves, SandraconferenceObjectopenAccess
Set-2011New splicing mutation in the cystatin B geneAmaral, Olga; Freitas, Joel; Pinto, Eugénia; Duarte, Ana Joana; Ribeiro, Isaura; Ribeiro, Diogo; Chaves, JoãoconferenceObjectrestrictedAccess
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