1. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Issue 1 (December 2018) Authors: Snijders Blok, Lot; Rousseau, Justine; Twist, Joanna; Ehresmann, Sophie; Takaku, Motoki; Venselaar, Hanka; Rodan, Lance; Nowak, Catherine; Douglas, Jessica; Swoboda, Kathryn; Steeves, Marcie; Sahai, Inderneel; Stumpel, Connie; Stegmann, Alexander; Wheeler, Patricia; Willing, Marcia; Fiala, Elise;... Journal: Nature communications Issue: Volume 9:Issue 1(2018) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. MG-117 Clinical features of prc2 complex-related overgrowth due to mutations in eed. (4th December 2015) Authors: Cohen, Ana; Shen, Yaoqing; Jones, Steven JM; Gibson, William Journal: Journal of medical genetics Issue: Volume 52(2015)Supplement 2 Page Start: A6 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism. Issue 3 (25th January 2013) Authors: Daoud, Hussein; Tétreault, Martine; Gibson, William; Guerrero, Kether; Cohen, Ana; Gburek-Augustat, Janina; Synofzik, Matthis; Brais, Bernard; Stevens, Cathy A; Sanchez-Carpintero, Rocio; Goizet, Cyril; Naidu, Sakkubai; Vanderver, Adeline; Bernard, Geneviève Journal: Journal of medical genetics Issue: Volume 50:Issue 3(2013) Page Start: 194 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗