1. An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. (). Issue 9 (2nd August 2018) Authors: Chitayat, David; Shannon, Patrick; Uster, Tami; Nezarati, Marjan M.; Schnur, Rhonda E.; Bhoj, Elizabeth J. Journal: American journal of medical genetics Issue: Volume 176:Issue 9(2018) Page Start: 2041 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. (2018). Issue 9 (2nd August 2018) Authors: Chitayat, David; Shannon, Patrick; Uster, Tami; Nezarati, Marjan M.; Schnur, Rhonda E.; Bhoj, Elizabeth J. Journal: American journal of medical genetics Issue: Volume 176:Issue 9(2018) Page Start: 2041 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. Issue 7 (26th April 2013) Authors: Kato, Mitsuhiro; Yamagata, Takanori; Kubota, Masaya; Arai, Hiroshi; Yamashita, Sumimasa; Nakagawa, Taku; FujII, Takanari; Sugai, Kenji; Imai, Kaoru; Uster, Tami; Chitayat, David; Weiss, Shelly; Kashii, Hirofumi; Kusano, Ryosuke; Matsumoto, Ayumi; Nakamura, Kazuyuki; Oyazato, Yoshinobu; Maeno, Mar... Journal: Epilepsia Issue: Volume 54:Issue 7(2013:Jul.) Page Start: 1282 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗