Open access
Oct 2026
Diagnostic pathways in developmental disorders: a decade-apart comparison of two multicenter cohorts (2012-2022).
As part of the third French National Plan for Rare Diseases, the AnDDI-Rares network initiated a nationwide study in 2019 to assess how diagnostic practices for developmental anomalies have evolved over the last decade (2012-2022), in the context of the implementation of genome sequencing (GS) capabilities via the Fran...
J. Maraval, Céline Dampfhoffer, Antoine Journé et al.
· European Journal of Human Ge... · 0 citations