Christèle Dubourg
0000-0003-1345-4522
4 papers found
Refreshing results…
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
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