Refreshing results…
Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186
Download from doi.orgAlu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias
Download from api.wiley.comAMYCNE: Confident copy number assessment using whole genome sequencing data
Download from doi.orgMissing publications? Search for publications with a matching author name.