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Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer.
Sernadela, Pedro; González-Castro, Lorena; Carta, Claudio; van der Horst, Eelke; Lopes, Pedro; Kaliyaperumal, Rajaram; Thompson, Mark; Thompson, Rachel; Queralt-Rosinach, Núria; Lopez, Estrella; Wood, Libby; Robertson, Agata; Lamanna, Claudia; Gilling, Mette; Orth, Michael; Merino-Martinez, Roxana; Posada, Manuel; Taruscio, Domenica; Lochmüller, Hanns; Robinson, Peter; Roos, Marco; Oliveira, José Luís.
Afiliação
  • Sernadela P; University of Aveiro, DETI/IEETA, Aveiro, Portugal.
  • González-Castro L; Galician Research and Development Center in Advanced Telecommunications (GRADIANT), Pontevedra, Spain.
  • Carta C; National Center for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
  • van der Horst E; Leiden University Medical Centre (LUMC), Leiden, Netherlands.
  • Lopes P; University of Aveiro, DETI/IEETA, Aveiro, Portugal.
  • Kaliyaperumal R; Leiden University Medical Centre (LUMC), Leiden, Netherlands.
  • Thompson M; Leiden University Medical Centre (LUMC), Leiden, Netherlands.
  • Thompson R; International Centre for Life, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Queralt-Rosinach N; Research Programme on Biomedical Informatics (GRIB), Hospital del Mar Medical Research Institute (IMIM), Universitat Pompeu Fabra (UPF), Barcelona, Spain.
  • Lopez E; Institute of Rare Diseases Research, ISCIII, SpainRDR and CIBERER, Madrid, Spain.
  • Wood L; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Robertson A; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Lamanna C; The European Huntington's Disease Network, University Hospital of Ulm, Ulm, Germany.
  • Gilling M; The European Huntington's Disease Network, University Hospital of Ulm, Ulm, Germany.
  • Orth M; Department of Neurology, University Hospital of Ulm, Ulm, Germany.
  • Merino-Martinez R; Karolinska Institutet, Solna, Sweden.
  • Posada M; Institute of Rare Diseases Research, ISCIII, SpainRDR and CIBERER, Madrid, Spain.
  • Taruscio D; National Center for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
  • Lochmüller H; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Robinson P; Institute of Medical Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
  • Roos M; Leiden University Medical Centre (LUMC), Leiden, Netherlands.
  • Oliveira JL; University of Aveiro, DETI/IEETA, Aveiro, Portugal.
Biomed Res Int ; 2017: 8327980, 2017.
Article em En | MEDLINE | ID: mdl-29214177

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Sistemas de Gerenciamento de Base de Dados / Sistema de Registros / Armazenamento e Recuperação da Informação / Doenças Raras / Web Semântica Idioma: En Revista: Biomed Res Int Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Portugal

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Sistemas de Gerenciamento de Base de Dados / Sistema de Registros / Armazenamento e Recuperação da Informação / Doenças Raras / Web Semântica Idioma: En Revista: Biomed Res Int Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Portugal