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List of works by Aurelien Trimouille

Deletion of the transcription factor SOX4 is implicated in syndromic nephroblastoma.

scientific article

Description of a family with X-linked OAVS associated with polyalanine tract expansion in ZIC3

scientific article published on 08 July 2020

Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS

scientific article published on 01 August 2020

Further delineation of the phenotype caused by biallelic variants in the WDR4 gene

scientific article published on 15 June 2017

IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences

scientific article published on 23 July 2018

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

scientific article

PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1

scientific article published on 23 March 2019

Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes

scientific article published on 25 June 2020

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