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Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases

Abstract Genetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: “Ensuring that all patients who present with a suspected ra...

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Glavni autori: Clara D. M. van Karnebeek, Anne O’Donnell-Luria, Gareth Baynam, Anaïs Baudot, Tudor Groza, Judith J. M. Jans, Timo Lassmann, Mary Catherine V. Letinturier, Stephen B. Montgomery, Peter N. Robinson, Stefaan Sansen, Ruty Mehrian-Shai, Charles Steward, Kenjiro Kosaki, Patricia Durao, Bekim Sadikovic
Format: Artigo
Jezik:Inglês
Izdano: BMC 2024-09-01
Serija:Orphanet Journal of Rare Diseases
Teme:
Rare disease
Rare disease diagnosis
Innovative technologies
IRDiRC
Rare disease research
Genomics
Online pristup:https://doi.org/10.1186/s13023-024-03361-0
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