Martin Chevarin
0000-0002-5010-4161
4 papers found
Refreshing results…
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort
Neutralization of HSF1 in cells from PIK3CA-related overgrowth spectrum patients blocks abnormal proliferation
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20
Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests
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