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List of works by Audrey Labalme

A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2.

scientific article published on 24 December 2013

Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA

scientific article

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases

scientific article published on 6 June 2009

Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism

scientific article published on 27 June 2012

Functional variants of POC5 identified in patients with idiopathic scoliosis

scientific article

Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

scientific article published on 29 June 2016

Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.

scientific article published on 11 December 2014

Monosomy 19pter and trisomy 19q13-qter in two siblings arising from a maternal pericentric inversion: clinical data and molecular characterization.

scientific article

Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia.

scientific article

New disease gene location and high genetic heterogeneity in idiopathic scoliosis.

scientific article

The psychological impact of cryptic chromosomal abnormalities diagnosis announcement.

scientific article published on 17 September 2013

Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome.

scientific article

West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1

scientific article published on 21 October 2015

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