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List of works by Anne-Sophie Lèbre

Clinical Genetics of Prolidase Deficiency: An Updated Review ⬇️

scientific article published on 21 May 2020

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome

scientific article published on 07 February 2022

Correction to: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 July 2019

Correction: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 August 2019

Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes

scientific article published on 6 May 2003

Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.

scientific article

New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.

scientific article

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

scientific article published on 28 October 2013

Prolidase deficiency: a new genetic cause of combined pulmonary fibrosis and emphysema syndrome in the adult

scientific article published on 09 April 2020

Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein content

scientific article

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