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List of works by Audrey Putoux

Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA.

scientific article

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 01 August 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 12 September 2018

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

scientific article

Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome

scientific article

X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant

scientific article published on 07 January 2021

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