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How to design a registry for undiagnosed patients in the framework of rare disease diagnosis: suggestions on software, data set and coding system.
Berger, Alexandra; Rustemeier, Anne-Kathrin; Göbel, Jens; Kadioglu, Dennis; Britz, Vanessa; Schubert, Katharina; Mohnike, Klaus; Storf, Holger; Wagner, Thomas O F.
  • Berger A; Frankfurt Reference Centre for Rare Diseases, University Hospital Frankfurt, Goethe University Frankfurt, Theodor-Stern-Kai 7, 60590, Frankfurt am Main, Germany. alexandra.berger@kgu.de.
  • Rustemeier AK; Medical Clinic II, University Hospital Gießen and Marburg, Klinikstraße 33, 35392, Gießen, Germany.
  • Göbel J; Medical Informatics Group Frankfurt, University Hospital Frankfurt, Goethe University Frankfurt, Theodor-Stern-Kai 7, 60590, Frankfurt am Main, Germany.
  • Kadioglu D; Medical Informatics Group Frankfurt, University Hospital Frankfurt, Goethe University Frankfurt, Theodor-Stern-Kai 7, 60590, Frankfurt am Main, Germany.
  • Britz V; Frankfurt Reference Centre for Rare Diseases, University Hospital Frankfurt, Goethe University Frankfurt, Theodor-Stern-Kai 7, 60590, Frankfurt am Main, Germany.
  • Schubert K; Central-German Network for rare diseases, University Hospital Magdeburg A.Ö.R, Leipziger Straße 44, 39120, Magdeburg, Germany.
  • Mohnike K; Central-German Network for rare diseases, University Hospital Magdeburg A.Ö.R, Leipziger Straße 44, 39120, Magdeburg, Germany.
  • Storf H; Medical Informatics Group Frankfurt, University Hospital Frankfurt, Goethe University Frankfurt, Theodor-Stern-Kai 7, 60590, Frankfurt am Main, Germany.
  • Wagner TOF; Frankfurt Reference Centre for Rare Diseases, University Hospital Frankfurt, Goethe University Frankfurt, Theodor-Stern-Kai 7, 60590, Frankfurt am Main, Germany.
Orphanet J Rare Dis ; 16(1): 198, 2021 05 01.
Article en En | MEDLINE | ID: mdl-33933089
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Programas Informáticos / Enfermedades Raras Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Año: 2021 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Programas Informáticos / Enfermedades Raras Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Año: 2021 Tipo del documento: Article