Virginie Carmignac
0000-0001-8802-6448
3 papers found
Refreshing results…
Mutations in SKI in Shprintzen-Goldberg syndrome lead to attenuated TGF-β responses through SKI stabilization
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing
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