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List of works by Guylaine D'Amours

A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL

scientific article published on 06 November 2019

Correction: Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease

Differential gene expression profiling in the mouse brain during motor skill learning: Focus on the striatum structure ⬇️

scientific article published on 02 March 2011

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

scientific article published on 05 October 2018

Prenatal pleural effusions and chylothorax: An unusual presentation for CM-AVM syndrome due to RASA1

scientific article published on 10 August 2020

Rare copy number variants contribute to congenital left-sided heart disease

scientific article

Refining the phenotype associated with biallelic DNAJC21 mutations

scientific article

SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay

scientific article published on 24 December 2014

Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype.

scientific article published on 16 May 2011

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