Refreshing results…
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome
Download from doi.orgSpliceosome malfunction causes neurodevelopmental disorders with overlapping features
Download from doi.orgKBG syndrome: Common and uncommon clinical features based on 31 new patients
Download from api.wiley.comBiallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome
UploadMissing publications? Search for publications with a matching author name.