1. Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing. (July 2021) Authors: Quitmann, Christina M.; Rust, Stephan; Reunert, Janine; Biskup, Saskia; Fiedler, Barbara; Marquardt, Thorsten Journal: Child neurology open Issue: Volume 8(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗