HAL (France)
open access
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) capab
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