1. An eight‐case 1q21 region series: novel aberrations and clinical variability with new features. Issue 6 (18th February 2019) Authors: Ceylan, A. C.; Sahin, I.; Erdem, H. B.; Kayhan, G.; Simsek‐Kiper, P. O.; Utine, G. E.; Percin, F.; Boduroglu, K.; Alikasifoglu, M. Journal: Journal of intellectual disability research Issue: Volume 63:Issue 6(2019) Page Start: 548 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis. Issue 4 (29th April 2016) Authors: Boppudi, S.; Bögershausen, N.; Hove, H.B.; Percin, E.F.; Aslan, D.; Dvorsky, R.; Kayhan, G.; Li, Y.; Cursiefen, C.; Tantcheva‐Poor, I.; Toft, P.B.; Bartsch, O.; Lissewski, C.; Wieland, I.; Jakubiczka, S.; Wollnik, B.; Ahmadian, M.R.; Heindl, L.M.; Zenker, M. Journal: Clinical genetics Issue: Volume 90:Issue 4(2016) Page Start: 334 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗