1. A prenatally diagnosed case of Meckel–Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene. Issue 5 (9th March 2019) Authors: Ridnõi, Konstantin; Šois, Marek; Vaidla, Eve; Pajusalu, Sander; Kelder, Larissa; Reimand, Tiia; Õunap, Katrin Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 5(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗