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List of works by Vincent Laugel

ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia

scientific article published on 01 January 2011

Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies

scientific article published on 07 October 2010

Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonates

scientific article published on 20 July 2007

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

scientific article published on 26 February 2018

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.

scientific article published on 9 November 2016

Next generation sequencing for molecular diagnosis of neuromuscular diseases.

scientific article

The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice

scientific journal article

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

scientific article

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases

scientific article published on 3 May 2016

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