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List of works by Lionel Val Maldergem

Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function

scientific article published on 04 June 2018

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

scientific article published on 23 July 2018

Living-donor liver transplantation for mild Zellweger spectrum disorder: Up to 17 years follow-up.

scientific article published on 16 February 2018

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

scientific article published on 24 July 2019

The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus

scientific article published on 05 May 2020

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

scientific article

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