Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians

Location
Deutsche Nationalbibliothek Frankfurt am Main
ISSN
1750-1172
Extent
Online-Ressource
Language
Englisch
Notes
online resource.

Bibliographic citation
Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians ; volume:15 ; number:1 ; day:22 ; month:7 ; year:2020 ; pages:1-10 ; date:12.2020
Orphanet journal of rare diseases ; 15, Heft 1 (22.7.2020), 1-10, 12.2020

Creator
Segal, Michael M.
George, Renee
Waltman, Peter
El-Hattab, Ayman W.
James, Kiely N.
Stanley, Valentina
Gleeson, Joseph
Contributor
SpringerLink (Online service)

DOI
10.1186/s13023-020-01461-1
URN
urn:nbn:de:101:1-2020091820195145468660
Rights
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
Last update
14.08.2025, 10:51 AM CEST

Data provider

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Associated

  • Segal, Michael M.
  • George, Renee
  • Waltman, Peter
  • El-Hattab, Ayman W.
  • James, Kiely N.
  • Stanley, Valentina
  • Gleeson, Joseph
  • SpringerLink (Online service)

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