1. Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13. Issue 4 (1st April 2000) Authors: Janssens, Katrien; Gershoni-Baruch, Ruth; Van Hul, Els; Brik, Riva; Guañabens, Nuria; Migone, Nicola; Verbruggen, Leon A; Ralston, Stuart H; Bonduelle, Maryse; Van Maldergem, Lionel; Vanhoenacker, Filip; Van Hul, Wim Journal: Journal of medical genetics Issue: Volume 37:Issue 4(2000) Page Start: 245 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. RNA‐Seq detects a SAMD12‐EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas. Issue 3 (10th January 2019) Authors: Oliver, Gavin R.; Blackburn, Patrick R.; Ellingson, Marissa S.; Conboy, Erin; Pinto e Vairo, Filippo; Webley, Matthew; Thorland, Erik; Ferber, Matthew; Van Hul, Els; van der Werf, Ilse M.; Wuyts, Wim; Babovic‐Vuksanovic, Dusica; Klee, Eric W. Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 3(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗