1. Constitutive activation of the PI3K‐AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome. Issue 6 (2nd April 2019) Authors: Zarate, Yuri A.; Boccuto, Luigi; Srikanth, Sujata; Pauly, Rini; Ocal, Eylem; Balmakund, Tonya; Hinkle, Kevin; Stefans, Vikki; Schaefer, Gerald B.; Collins, Ronnie Thomas Journal: American journal of medical genetics Issue: Volume 179:Issue 6(2019) Page Start: 1047 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey. Issue 10 (17th August 2017) Authors: Helm, Benjamin M.; Powis, Zoe; Prada, Carlos E.; Casasbuenas‐Alarcon, Olga L.; Balmakund, Tonya; Schaefer, G. B.; Kahler, Stephen G.; Kaylor, Julie; Winter, Susan; Zarate, Yuri A.; Schrier Vergano, Samantha A. Journal: American journal of medical genetics Issue: Volume 173:Issue 10(2017) Page Start: 2814 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗