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List of works by Isabelle Thiffault

A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome

scientific article

A mutation in the RNF170 gene causes autosomal dominant sensory ataxia

scientific article published on 28 November 2010

BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder

scientific article published on 30 January 2020

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

scientific article published on 22 January 2020

Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing

scientific article published on 23 June 2020

Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.

scientific article published on 2 November 2017

MAGEL2-related disorders: A study and case series

scientific article published on 22 August 2019

On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing

article

Pathogenic variants in KPTN gene identified by Clinical Whole-Genome Sequencing

scientific article published on 01 May 2020

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings

scientific article published on 27 April 2015

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