Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases RESEARCH Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians Michael M. Segal, Renee George, Peter Waltman, Ayman W. El-Hattab, Kiely N. James, Valentina Stanley and Joseph Gleeson Orphanet Journal of Rare Diseases 2020, 15:191 | Published on: 22 July 2020 Full Text | PDF

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