David Genevieve
0000-0001-6928-6287
6 papers found
Refreshing results…
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
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