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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
Authors
T Besnard
A Boland
+27Â more
Al Bruel
P Callier
B Cogne
E Colin
Fg Debray
J Delanne
Jf Deleuze
As Denomme-Pichon
C Dubourg
Y Duffourd
S El Chehadeh
L Faivre
Md Fenzy
M Fradin
A Goldenberg
M Gorce
B Isidor
Ft Mau-Them
S Moutton
R Olaso
C Philippe
D Sanlaville
A Sorlin
C Thauvin-Robinet
E Tisserant
K Uguen
A Vitobello
Publication date
1 January 2022
Publisher
Nature Publishing Group
Abstract
Meeting Abstract P11.096.
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oai:HAL:hal-04211099v1
Last time updated on 06/10/2023