Juliette Coursimault
0000-0002-2668-5779
CHU de Rouen
3 papers found
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Contribution of DNA methylation profiling to the reclassification of a variant of uncertain significance in the KDM5C gene
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients
uORF‐introducing variants in the 5′UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome
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