1. A Case of True Hermaphroditism Presenting as a Testicular Tumour. (3rd February 2015) Authors: Ceci, Michelle; Calleja, Edward; Said, Edith; Gatt, Noel Other Names: Solivetti Francesco M. Academic Editor. Journal: Case reports in urology Issue: Volume 2015(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Expanding the genetic and phenotypic spectrum of CHD2‐related disease: From early neurodevelopmental disorders to adult‐onset epilepsy. Issue 2 (29th October 2021) Authors: De Maria, Beatrice; Balestrini, Simona; Mei, Davide; Melani, Federico; Pellacani, Simona; Pisano, Tiziana; Rosati, Anna; Scaturro, Giusi M.; Giordano, Lucio; Cantalupo, Gaetano; Fontana, Elena; Zammarchi, Cristina; Said, Edith; Leuzzi, Vincenzo; Mastrangelo, Mario; Galosi, Serena; Parrini, Elena;... Journal: American journal of medical genetics Issue: Volume 188:Issue 2(2022) Page Start: 522 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1. Issue 11 (8th September 2017) Authors: Said, Edith; Chong, Jessica X.; Hempel, Maja; Denecke, Jonas; Soler, Paul; Strom, Tim; Nickerson, Deborah A.; Kubisch, Christian; Bamshad, Michael J.; Lessel, Davor Journal: American journal of medical genetics Issue: Volume 173:Issue 11(2017) Page Start: 3098 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗