1. A CGG‐Repeat Expansion Mutation in ZNF713 Causes FRA7A: Association with Autistic Spectrum Disorder in Two Families. Issue 11 (November 2014) Authors: Metsu, Sofie; Rainger, Jacqueline K.; Debacker, Kim; Bernhard, Birgitta; Rooms, Liesbeth; Grafodatskaya, Daria; Weksberg, Rosanna; Fombonne, Eric; Taylor, Martin S.; Scherer, Stephen W.; Kooy, R. Frank; FitzPatrick, David R. Journal: Human mutation Issue: Volume 35:Issue 11(2014:Nov.) Page Start: 1295 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A patient with a germline SDHB mutation presenting with an isolated pituitary macroprolactinoma. (21st July 2018) Authors: Maher, Michelle; Roncaroli, Federico; Mendoza, Nigel; Meeran, Karim; Canham, Natalie; Kosicka-Slawinska, Monika; Bernhard, Birgitta; Collier, David; Drummond, Juliana; Skordilis, Kassiani; Tufton, Nicola; Gontsarova, Anastasia; Martin, Niamh; Korbonits, Márta; Wernig, Florian Journal: Endocrinology, diabetes & metabolism case reports Issue: (2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Variable developmental delays and characteristic facial features—A novel 7p22.3p22.2 microdeletion syndrome?. Issue 6 (25th April 2017) Authors: Yu, Andrea C.; Zambrano, Regina M.; Cristian, Ingrid; Price, Sue; Bernhard, Birgitta; Zucker, Marc; Venkateswaran, Sunita; McGowan‐Jordan, Jean; Armour, Christine M. Journal: American journal of medical genetics Issue: Volume 173:Issue 6(2017) Page Start: 1593 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗