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. Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf‐Hirschhorn syndrome–associated seizures disorder. Issue 6 (16th April 2014) Authors: Zollino, Marcella; Orteschi, Daniela; Ruiter, Mariken; Pfundt, Rolph; Steindl, Katharina; Cafiero, Concetta; Ricciardi, Stefania; Contaldo, Ilaria; Chieffo, Daniela; Ranalli, Domiziana; Acquafondata, Celeste; Murdolo, Marina; Marangi, Giuseppe; Asaro, Alessia; Battaglia, Domenica Journal: Epilepsia Issue: Volume 55:Issue 6(2014:Jun.) Page Start: 849 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗