1. Central 22q11.2 deletions. Issue 11 (14th August 2014) Authors: Rump, Patrick; de Leeuw, Nicole; van Essen, Anthonie J.; Verschuuren‐Bemelmans, Corien C.; Veenstra‐Knol, Hermine E.; Swinkels, Mariëlle E.M.; Oostdijk, Wilma; Ruivenkamp, Claudia; Reardon, Willie; de Munnik, Sonja; Ruiter, Mariken; Frumkin, Ayala; Lev, Dorit; Evers, Christina; Sikkema‐Raddatz, B... Journal: American journal of medical genetics Issue: Volume 164:Issue 11(2014.) Page Start: 2707 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene. Issue 3 (24th March 2018) Authors: van der Schoot, Vyne; de Munnik, Sonja; Venselaar, Hanka; Elting, Mariet; Mancini, Grazia M. S.; Ravenswaaij‐Arts, Conny M. A.; Anderlid, Britt‐Marie; Brunner, Han G.; Stevens, Servi J. C. Journal: Molecular genetics & genomic medicine Issue: Volume 6:Issue 3(2018) Page Start: 393 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗