Mathilde Nizon
0000-0003-2170-4210
8 papers found
Refreshing results…
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network
Clinical delineation of SETBP1 haploinsufficiency disorder
Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect
ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia
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