Refreshing results…
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia
UploadHeterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability
UploadGenetic heterogeneity in Pakistani microcephaly families revisited
Download from api.wiley.comMutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism
Download from www.nature.comMissing publications? Search for publications with a matching author name.