1. De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability. (15th June 2015) Authors: Parker, Michael J.; Fryer, Alan E.; Shears, Deborah J.; Lachlan, Katherine L.; McKee, Shane A.; Magee, Alex C.; Mohammed, Shehla; Vasudevan, Pradeep C.; Park, Soo‐Mi; Benoit, Valérie; Lederer, Damien; Maystadt, Isabelle; study, DDD; FitzPatrick, David R. Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2231 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability. (15th June 2015) Authors: Parker, Michael J.; Fryer, Alan E.; Shears, Deborah J.; Lachlan, Katherine L.; McKee, Shane A.; Magee, Alex C.; Mohammed, Shehla; Vasudevan, Pradeep C.; Park, Soo‐Mi; Benoit, Valérie; Lederer, Damien; Maystadt, Isabelle; study, DDD; FitzPatrick, David R. Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2231 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗