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Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
UploadNeuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations
UploadThe GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus
Download from api.wiley.comIncreasing knowledge in IGF1R defects: lessons from 35 new patients
UploadA clinical scoring system for congenital contractural arachnodactyly
Download from www.nature.comActivating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome
UploadPhenotypic expansion in DDX3X - a common cause of intellectual disability in females.
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