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Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders

Published on 2 October 2023
Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders
Description
 
Date de publication 
Auteurs
Colin E, Duffourd Y, Chevarin M, Tisserant E, Verdez S, Paccaud J, Bruel AL, Tran Mau-Them F, Denomme-Pichon AS, Thevenon J, Safraou H, Besnard T, Goldenberg A, Cogne B, Isidor B, Delanne J, Sorlin A, Moutton S, Fradin M, Dubourg C, Gorce M, Bonneau D, El Chehadeh S, Debray FG, Doco-Fenzy M, Uguen K, Chatron N, Aral B, Marle N, Kuentz P, Boland A, Olaso R, Deleuze JF, Sanlaville D, Callier P, Philippe C, Thauvin-Robinet C, Faivre L and Vitobello A
Revue
Année2,023
Département / Service
CNRGH
Laboratoire
LBanq, LHD
Impact Factor 
InstitutJACOB
url DOI10.3389/fcell.2023.1021920

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