Laurent Pasquier
www.defiscience.fr
0000-0003-3985-1286
Centre Hospitalier Universitaire de Rennes
7 papers found
Refreshing results…
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network
Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotype.
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients
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