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Phelan-McDermid syndrome data network: Integrating patient reported outcomes with clinical notes and curated genetic reports.
Kothari, Cartik; Wack, Maxime; Hassen-Khodja, Claire; Finan, Sean; Savova, Guergana; O'Boyle, Megan; Bliss, Geraldine; Cornell, Andria; Horn, Elizabeth J; Davis, Rebecca; Jacobs, Jacquelyn; Kohane, Isaac; Avillach, Paul.
Afiliação
  • Kothari C; Department of Biomedical Informatics, Harvard Medical School, Boston, Massachusetts.
  • Wack M; Department of Biomedical Informatics, Harvard Medical School, Boston, Massachusetts.
  • Hassen-Khodja C; Department of Biomedical Informatics, Harvard Medical School, Boston, Massachusetts.
  • Finan S; Boston Children's Hospital, Boston, Massachusetts.
  • Savova G; Boston Children's Hospital, Boston, Massachusetts.
  • O'Boyle M; Phelan-McDermid Syndrome Foundation, Venice, Florida.
  • Bliss G; Phelan-McDermid Syndrome Foundation, Venice, Florida.
  • Cornell A; Phelan-McDermid Syndrome Foundation, Venice, Florida.
  • Horn EJ; Phelan-McDermid Syndrome Foundation, Venice, Florida.
  • Davis R; Phelan-McDermid Syndrome Foundation, Venice, Florida.
  • Jacobs J; Phelan-McDermid Syndrome Foundation, Venice, Florida.
  • Kohane I; Department of Biomedical Informatics, Harvard Medical School, Boston, Massachusetts.
  • Avillach P; Department of Biomedical Informatics, Harvard Medical School, Boston, Massachusetts.
Am J Med Genet B Neuropsychiatr Genet ; 177(7): 613-624, 2018 10.
Article em En | MEDLINE | ID: mdl-28862395

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Armazenamento e Recuperação da Informação / Estudos de Associação Genética / Mineração de Dados Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Am J Med Genet B Neuropsychiatr Genet Assunto da revista: GENETICA MEDICA / NEUROLOGIA / PSIQUIATRIA Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Armazenamento e Recuperação da Informação / Estudos de Associação Genética / Mineração de Dados Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Revista: Am J Med Genet B Neuropsychiatr Genet Assunto da revista: GENETICA MEDICA / NEUROLOGIA / PSIQUIATRIA Ano de publicação: 2018 Tipo de documento: Article