1. COMMENTARY—The Saul–Wilson syndrome from its early days until now. Issue 2 (13th December 2018) Authors: Saul, Robert A.; Wilson, William G. Journal: American journal of medical genetics Issue: Volume 179:Issue 2(2019) Page Start: 159 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Highlighting the Dystonic Phenotype Related to GNAO1. Issue 7 (20th June 2022) Authors: Wirth, Thomas; Garone, Giacomo; Kurian, Manju A.; Piton, Amélie; Millan, Francisca; Telegrafi, Aida; Drouot, Nathalie; Rudolf, Gabrielle; Chelly, Jamel; Marks, Warren; Burglen, Lydie; Demailly, Diane; Coubes, Phillipe; Castro‐Jimenez, Mayte; Joriot, Sylvie; Ghoumid, Jamal; Belin, Jérémie; Faucheu... Journal: Movement disorders Issue: Volume 37:Issue 7(2022) Page Start: 1547 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Ophthalmic Diagnosis and Novel Management of Infantile Refsum Disease with Combination Docosahexaenoic Acid and Cholic Acid. (9th October 2021) Authors: Elghawy, Omar; Zhang, Alice Y.; Duong, Ryan; Wilson, William G.; Shildkrot, Eugene Y. Other Names: Hayashi Takaaki Academic Editor. Journal: Case reports in ophthalmological medicine Issue: Volume 2021(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy. Issue 2 (13th July 2021) Authors: Spinelli, Egidio; Christensen, Kyle R.; Bryant, Emily; Schneider, Amy; Rakotomamonjy, Jennifer; Muir, Alison M.; Giannelli, Jessica; Littlejohn, Rebecca O.; Roeder, Elizabeth R.; Schmidt, Berkley; Wilson, William G.; Marco, Elysa J.; Iwama, Kazuhiro; Kumada, Satoko; Pisano, Tiziana; Barba, Carmen... Journal: Annals of neurology Issue: Volume 90:Issue 2(2021) Page Start: 274 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. White Matter Changes in an Untreated, Newly Diagnosed Case of Classical Homocystinuria. (January 2014) Authors: Brenton, J. Nicholas; Matsumoto, Julie A.; Rust, Robert S.; Wilson, William G. Journal: Journal of child neurology Issue: Volume 29:Number 1(2014:Jan.) Page Start: 88 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗