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Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping.
Chen, Xiaoyi; Garcelon, Nicolas; Neuraz, Antoine; Billot, Katy; Lelarge, Marc; Bonald, Thomas; Garcia, Hugo; Martin, Yoann; Benoit, Vincent; Vincent, Marc; Faour, Hassan; Douillet, Maxime; Lyonnet, Stanislas; Saunier, Sophie; Burgun, Anita.
Afiliação
  • Chen X; INSERM UMR1138, Centre de Recherche des Cordeliers, Team 22, Paris, France. Electronic address: xiaoyi.chen@inserm.fr.
  • Garcelon N; Institut Imagine, Paris Descartes University-Sorbonne Paris Cité, Paris, France.
  • Neuraz A; INSERM UMR1138, Centre de Recherche des Cordeliers, Team 22, Paris, France; Department of Medical Informatics, Necker-Enfants Malades Hospital, Assistance Publique - Hôpitaux de Paris (AP-HP), Paris, France.
  • Billot K; INSERM UMR1163, Institut Imagine, Laboratory of Inherited Kidney Diseases, Paris, France; Paris Descartes University Sorbonne Paris Cité, Paris, France.
  • Lelarge M; INRIA-ENS, Paris, France.
  • Bonald T; Telecom ParisTech, Paris, France.
  • Garcia H; INSERM UMR1163, Institut Imagine, Laboratory of Inherited Kidney Diseases, Paris, France; Paris Descartes University Sorbonne Paris Cité, Paris, France.
  • Martin Y; INSERM UMR1163, Institut Imagine, Laboratory of Inherited Kidney Diseases, Paris, France; Paris Descartes University Sorbonne Paris Cité, Paris, France.
  • Benoit V; Institut Imagine, Paris Descartes University-Sorbonne Paris Cité, Paris, France.
  • Vincent M; Institut Imagine, Paris Descartes University-Sorbonne Paris Cité, Paris, France.
  • Faour H; Institut Imagine, Paris Descartes University-Sorbonne Paris Cité, Paris, France.
  • Douillet M; Institut Imagine, Paris Descartes University-Sorbonne Paris Cité, Paris, France.
  • Lyonnet S; INSERM UMR1163, Institut Imagine, Laboratory of Embryology and Genetics of Congenital Malformations, Paris, France; Paris Descartes University Sorbonne Paris Cité, Paris, France; Department of Genetics, Necker-Enfants Malades Hospital, Assistance Publique - Hôpitaux de Paris (AP-HP), Paris, France.
  • Saunier S; INSERM UMR1163, Institut Imagine, Laboratory of Inherited Kidney Diseases, Paris, France; Paris Descartes University Sorbonne Paris Cité, Paris, France.
  • Burgun A; INSERM UMR1138, Centre de Recherche des Cordeliers, Team 22, Paris, France; Department of Medical Informatics, Necker-Enfants Malades Hospital, Assistance Publique - Hôpitaux de Paris (AP-HP), Paris, France; Paris Descartes University Sorbonne Paris Cité, Paris, France.
J Biomed Inform ; 100: 103308, 2019 12.
Article em En | MEDLINE | ID: mdl-31622800
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Doenças Raras / Ciliopatias Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: J Biomed Inform Assunto da revista: INFORMATICA MEDICA Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Doenças Raras / Ciliopatias Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: J Biomed Inform Assunto da revista: INFORMATICA MEDICA Ano de publicação: 2019 Tipo de documento: Article