未登录PLXNB1 mutations in the etiology of idiopathic hypogonadotropic hypogonadism特发性低促性腺激素性性腺功能减退症的病因中的PLXNB1突变
Welch, Bradley A.; Cho, Hyun-Ju; Ucakturk, Seyit Ahmet; Farmer, Stephen Matthew; Cetinkaya, Semra; Abaci, Ayhan; Akkus, Gamze; Simsek, Enver; Kotan, Leman Damla; Turan, Ihsan; Gurbuz, Fatih; Yuksel, Bilgin; Wray, Susan; Topaloglu, A. Kemal
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收藏Inactivating NHLH2 variants cause idiopathic hypogonadotropic hypogonadism and obesity in humans
Topaloglu, A. Kemal; Simsek, Enver; Kocher, Matthew A.; Mammadova, Jamala; Bober, Ece; Kotan, Leman Damla; Turan, Ihsan; Celiloglu, Can; Gurbuz, Fatih; Yuksel, Bilgin; Good, Deborah J.
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收藏Evaluation of therapeutics management patterns and glycemic control of pediatric type 1 diabetes mellitus patients in Turkey: A nationwide cross-sectional study
Hatun, Sukru; Demirbilek, Huseyin; Darcan, Sukran; Yuksel, Aysegul; Binay, Cigdem; Simsek, Damla Goksen; Kara, Cengiz; Cetinkaya, Ergun; Unuvar, Tolga; Ucakturk, Ahmet; Tutunculer, Filiz; Cesur, Yasar; Bundak, Ruveyde; Saglam, Halil; Simsek, Enver; Bereket, Abdullah
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收藏Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey
Akinci, Bans; Onay, Huseyin; Demir, Tevfik; Ozen, Samim; Kayserili, Hulya; Akinci, Gulcin; Nur, Banu; Tuysuz, Beyhan; Ozbek, Mehmet Nun; Gungor, Adem; Simsir, Ilgin Yildirim; Altay, Canan; Demir, Leyla; Simsek, Enver; Atmaca, Murat; Topaloglu, Haluk; Bilen, Habib; Atmaca, Hulusi; Atik, Tahir; Cavdar, Umit; Altunoglu, Umut; Aslanger, Ayca; Mihci, Ercan; Secil, Mustafa; Saygili, Fusun; Comlekci, Abdurrahman; Garg, Abhimanyu
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收藏Genome-Wide Homozygosity Analysis Reveals HADH Mutations as a Common Cause of Diazoxide-Responsive Hyperinsulinemic-Hypoglycemia in Consanguineous Pedigrees
Flanagan, Sarah E.; Patch, Ann-Marie; Locke, Jonathan M.; Akcay, Teoman; Simsek, Enver; Alaei, Mohammadreza; Yekta, Zeinab; Desai, Meena; Kapoor, Ritika R.; Hussain, Khalid; Ellard, Sian
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收藏A novel thyroid hormone receptor-β mutation that fails to bind nuclear receptor corepressor in a patient as an apparent cause of severe, predominantly pituitary resistance to thyroid hormone
Wu, SY; Cohen, RN; Simsek, E; Senses, DA; Yar, NE; Grasberger, H; Noel, J; Refetoff, S; Weiss, RE
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收藏A new mutation of the fukutin gene in a non-Japanese patient
Silan, F; Yoshioka, M; Kobayashi, K; Simsek, E; Tunc, M; Alper, M; Cam, M; Guven, A; Fukuda, Y; Kinoshita, M; Kocabay, K; Toda, T
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