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Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases.
van Karnebeek CDM, O'Donnell-Luria A, Baynam G, Baudot A, Groza T, Jans JJM, Lassmann T, Letinturier MCV, Montgomery SB, Robinson PN, Sansen S, Mehrian-Shai R, Steward C, Kosaki K, Durao P, Sadikovic B. van Karnebeek CDM, et al. Among authors: steward c. Orphanet J Rare Dis. 2024 Sep 27;19(1):357. doi: 10.1186/s13023-024-03361-0. Orphanet J Rare Dis. 2024. PMID: 39334316 Free PMC article. Review.
Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee.
Adams DR, van Karnebeek CDM, Agulló SB, Faùndes V, Jamuar SS, Lynch SA, Pintos-Morell G, Puri RD, Shai R, Steward CA, Tumiene B, Verloes A; members of the IRDiRC Diagnostic Scientific Committee. Adams DR, et al. Eur J Med Genet. 2024 Aug;70:104951. doi: 10.1016/j.ejmg.2024.104951. Epub 2024 Jun 6. Eur J Med Genet. 2024. PMID: 38848991 Free article.
290 results