Thomas Smol
0000-0002-0119-5896
CHU Lille
4 papers found
Refreshing results…
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria
The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
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