1. Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families. (7th November 2014) Authors: Demirbilek, Huseyin; Ozbek, M. Nuri; Demir, Korcan; Kotan, L. Damla; Cesur, Yasar; Dogan, Murat; Temiz, Fatih; Mengen, Eda; Gurbuz, Fatih; Yuksel, Bilgin; Topaloglu, A. Kemal Journal: Clinical endocrinology Issue: Volume 82:Number 3(2015:Mar.) Page Start: 429 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Prevalence and associated phenotypes of PLXNA1 variants in normosmic and anosmic idiopathic hypogonadotropic hypogonadism. Issue 2 (26th December 2018) Authors: Kotan, Leman D.; Isik, Emregul; Turan, Ihsan; Mengen, Eda; Akkus, Gamze; Tastan, Mehmet; Gurbuz, Fatih; Yuksel, Bilgin; Topaloglu, A. Kemal Journal: Clinical genetics Issue: Volume 95:Issue 2(2019) Page Start: 320 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗