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Hormone Research in Paediatrics|August 8, 2013
The novel mutation p.Trp147Arg of the steroidogenic acute regulatory protein causes classic lipoid congenital adrenal hyperplasia with adrenal insufficiency and 46,XY disorder of sex developmentBilgin Yüksel, Alexandra E Kulle, Fatih Gürbüz, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|April 14, 2021
Experience with the targeted next-generation sequencing in the diagnosis of hereditary hypophosphatemic ricketsIhsan Turan, Sevcan Erdem, Leman Damla Kotan, et al.Clinical Endocrinology|September 30, 2014
Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated familiesHuseyin Demirbilek, M Nuri Ozbek, Korcan Demir, et al.Human Genetics|January 23, 2022
Inactivating NHLH2 variants cause idiopathic hypogonadotropic hypogonadism and obesity in humansA Kemal Topaloglu, Enver Simsek, Matthew A Kocher, et al.The New England Journal of Medicine|February 17, 2012
Inactivating KISS1 mutation and hypogonadotropic hypogonadismA Kemal Topaloglu, Javier A Tello, L Damla Kotan, et al.Endocrinology|March 26, 2016
CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal MigrationB Ian Hutchins, L Damla Kotan, Carol Taylor-Burds, et al.Calcified Tissue International|January 16, 2026
Targeting Hypercalciuria in SLC34A1-Related Disorders: Impact of Oral Phosphate Therapy and Novel Genetic Insights in Pediatric Case SeriesIhsan Turan, Muge Atar, Mehmet Eltan, et al.American Journal of Human Genetics|September 6, 2014
Mutations in FEZF1 cause Kallmann syndromeL Damla Kotan, B Ian Hutchins, Yusuf Ozkan, et al.The Journal of Clinical Endocrinology and Metabolism|September 18, 2024
Expanding the Spectrum of Endocrine Abnormalities Associated With SOX11-related DisordersBang Sun, Maria I Stamou, Sara L Stockman, et al.Journal of Neuroendocrinology|February 16, 2022
PLXNB1 mutations in the etiology of idiopathic hypogonadotropic hypogonadismBradley A Welch, Hyun-Ju Cho, Seyit Ahmet Ucakturk, et al.Pageof 4