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17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort Siklar, Zeynep; Camtosun, Emine; Bolu, Semih; Yildiz, Melek; Akinci, Aysehan; Bas, Firdevs; Dundar, Ismail; Bestas, Asli; Unal, Edip; Kocaay, Pinar; Guran, Tulay; Buyukyilmaz, Gonul; Ugurlu, Aylin Kilinc; Tosun, Busra Gurpinar; Turan, Ihsan; Kurnaz, Erdal; Yuksel, Bilgin; Turkkahraman, Doga; Cayir, Atilla; Celmeli, Gamze; Gonc, E. Nazli; Eklioglu, Beray Selver; Cetinkaya, Semra; Yilmaz, Seniha Kiremitci; Atabek, Mehmet Emre; Buyukinan, Muammer; Arslan, Emrullah; Mengen, Eda; Cakir, Esra Deniz Papatya; Karaoglan, Murat; Hatipoglu, Nihal; Orbak, Zerrin; Ucar, Ahmet; Akyurek, Nesibe; Akbas, Emine Demet; Isik, Emregul; Kaygusuz, Sare Betul; Sutcu, Zumrut Kocabey; Seymen, Gulcan; Berberoglu, Merih 分享 收藏
Molecular diagnosis in patients with monogenic diabetes mellitus, and detection of a novel candidate gene Goksen, Damla; Evin, Ferda; Isik, Esra; Ozen, Samim; Atik, Tahir; Ozkinay, Ferda; Akcan, Nese; Ozkan, Behzat; Buyukinan, Muammer; Ozbek, Mehmet Nuri; Darcan, Sukran; Onay, Huseyin 分享 收藏
Clinical and Hormonal Profiles Correlate With Molecular Characteristics in Patients With 11β-Hydroxylase Deficiency Yildiz, Melek; Isik, Emregul; Abali, Zehra Yavas; Keskin, Mehmet; Ozbek, Mehmet Nuri; Bas, Firdevs; Ucakturk, Seyit Ahmet; Buyukinan, Muammer; Onal, Hasan; Kara, Cengiz; Storbeck, Karl-Heinz; Darendeliler, Feyza; Cayir, Atilla; Unal, Edip; Anik, Ahmet; Demirbilek, Huseyin; Cetin, Tugba; Dursun, Fatma; Catli, Gonul; Turan, Serap; Falhammar, Henrik; Baris, Tugba; Yaman, Ali; Haklar, Goncagul; Bereket, Abdullah; Guran, Tulay 分享 收藏
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Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations Demir, Korcan; van Gucht, Anja L. M.; Buyukinan, Muammer; Catli, Goenuel; Ayhan, Yavuz; Bas, Veysel Nijat; Dundar, Bumin; Ozkan, Behzat; Meima, Marcel E.; Visser, W. Edward; Peeters, Robin P.; Visser, Theo J. 分享 收藏
Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort Guran, Tulay; Buonocore, Federica; Saka, Nurcin; Ozbek, Mehmet Nuri; Aycan, Zehra; Bereket, Abdullah; Bas, Firdevs; Darcan, Sukran; Bideci, Aysun; Guven, Ayla; Demir, Korcan; Akinci, Aysehan; Buyukinan, Muammer; Aydin, Banu Kucukemre; Turan, Serap; Agladioglu, Sebahat Yilmaz; Atay, Zeynep; Abali, Zehra Yavas; Tarim, Omer; Catli, Gonul; Yuksel, Bilgin; Akcay, Teoman; Yildiz, Metin; Ozen, Samim; Doger, Esra; Demirbilek, Huseyin; Ucar, Ahmet; Isik, Emregul; Ozhan, Bayram; Bolu, Semih; Ozgen, Ilker Tolga; Suntharalingham, Jenifer P.; Achermann, John C. 分享 收藏
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