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List of works by Emilie D Douine

DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype

scientific article published on 12 July 2018

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

scientific article published on 14 October 2019

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

scientific article published on 24 September 2018

Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis.

scientific article published on 25 October 2017

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