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Typical clinical diagnosis and negative first-line molecular results: when genome sequencing and transcriptomics integration helps untangle unexplained rare Mendelian diseases

Published on 2 October 2023
Typical clinical diagnosis and negative first-line molecular results: when genome sequencing and transcriptomics integration helps untangle unexplained rare Mendelian diseases
Description
 
Date de publication 
Auteurs
Colin E, Duffourd Y, Callier P, Tisserant E, Besnard T, Goldenberg A, Cogne B, Isidor B, Sorlin A, Moutton S, Delanne J, Bruel AL, Mau-Them FT, Denomme-Pichon AS, Fradin M, Dubourg C, Gorce M, El Chehadeh S, Debray FG, Fenzy MD, Uguen K, Boland A, Olaso R, Deleuze JF, Sanlaville D, Philippe C, Thauvin-Robinet C, Faivre L and Vitobello A
Revue
European Journal of Human Genetics 30 (Suppl 1), 356-357, 2022
Année2,022
Département / Service
CNRGH
Laboratoire
LBanq, LHD
Impact Factor5.31
InstitutJACOB
url DOI 

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