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收藏分享 收藏 The First-Year Outcomes of the Nationwide Neonatal CAH Screening in Türkiye: High Rate of False Positives for 21-Hydroxylase Deficiency and a Higher Detection Rate of Non-Classical Cases土耳其全国新生儿先天性肾上腺皮质增生症筛查的首年结果：21-羟化酶缺乏症的高假阳性率及非典型病例的高检出率
Guran, Tulay; Yuruker, Elif; Anik, Ahmet; Atar, Muge; Camtosun, Emine; Eviz, Elif; Isakoca, Mehmet; Mengen, Eda; Tosun, Busra Gurpinar; Turan, Ihsan; Ugurlu, Aylin Kilinc; Unal, Edip; Vuralli, Dogus; Yilmaz, Gulay Can; Aydogmus, Yuksel Hakan; Darcan, Sukran 分享 收藏 Clinical and Molecular Spectrum of Infantile Hypercalcemia Type I: Insights Into CYP24A1 Variants婴儿型高钙血症I型的临床与分子谱：CYP24A1变异的见解Eltan, Mehmet; Alavanda, Ceren; Kurt, Ilknur; Yavas Abali, Zehra; Abali, Saygin; Helvacioglu, Didem; Guran, Tulay; Bereket, Abdullah; Ata, Pinar; Turan, Serap 分享 收藏 分享 收藏 Impact of Growth-promoting Therapies on Puberty, Growth, and Final Height in Classical 21-hydroxylase Deficiency生长促进疗法对经典型21-羟化酶缺乏症患者青春期、生长及最终身高的影响Yavas Abali, Zehra; Yildiz, Melek; Abali, Saygin; Moniri, Ariorad; Bas, Firdevs; Onal, Hasan; Cilsaat, Gizem; Toksoy, Guven; Turan, Serap; Poyrazoglu, Sukran; Uyguner, Zehra Oya; Bundak, Ruveyde; Bereket, Abdullah; Darendeliler, Feyza; Guran, Tulay 分享 收藏 Children With Diabetes and At Least One Non-Autoimmune Feature Should Be Considered for Monogenic Diabetes Testing儿童患有糖尿病且至少有一种非自身免疫特征者，应考虑进行单基因糖尿病检测。Myers, Rebecca; Yildiz, Melek; Nuri Ozbek, Mehmet; Manzoor, Jaida; Ibrahim, Mohsina; Yajnik, Chittaranjan; Atar, Muge; Siklar, Zeynep; Acar, Sezer; Globa, Evgenia; Magdy Omar, Omneya; Hassan, Samar; Demirbilek, Huseyin; Demir, Korcan; Hanif, Misbah; Guran, Tulay; Hatipoglu, Nihal; Kocyigit, Cemil; Colclough, Kevin; Houghton, Jayne; Hattersley, Andrew; Van Heugten, Rachel; Patel, Kashyap 分享 收藏 分享 收藏 分享 收藏 Primary adrenal insufficiency caused by pseudo-neonatal adrenoleukodystrophy associated with biallelic ACOX1 mutations原发性肾上腺功能不全由假性新生儿肾上腺脑白质营养不良引起，并与双等位基因ACOX1突变相关。Helvacioglu, Didem; Canbaz, Aylin Tugba; Tekmenuray-Unal, Aysel; Ada, Yasin; Yapici, Ozge; Genc, Emine; Kilavuz, Sebile; Tosun, Busra Gurpinar; Hismi, Burcu Ozturk; Guran, Tulay 分享 收藏 分享 收藏 分享 收藏 Phenotypes Linked to Duplication Upstream of SOX9: New Insights Into Presentation and DiagnosisUnal, Edip; Tekmenuray-Unal, Aysel; Cayir, Atilla; Papatya Cakir, Esra Deniz; Beyazit, Nurcan; Kolbasi, Baris; Gurpinar Tosun, Busra; Yigit, Gokhan; Zibat, Arne; Wollnik, Bernd; Demirbilek, Huseyin; Guran, Tulay 分享 收藏 Gonadal function and pathology in 17beta-HSD 3 and 5alpha-reductase deficiencyBoogers, Lidewij S.; Bruggenwirth, Hennie T.; Wolffenbuttel, Katja P.; Hersmus, Remko; Bryce, Jillian; Ahmed, S. Faisal; Lucas-Herald, Angela K.; Baronio, Federico; Cools, Martine; Ellaithi, Mona; Globa, Evgenia; Guran, Tulay; Hiort, Olaf; Holterhus, Paul-Martin; Mcelreavey, Kenneth; Niedziela, Marek; Stancampiano, Marianna Rita; Tosun, Busra G.; van Bever, Yolande; Oosterhuis, J. Wolter; Looijenga, Leendert H. J.; Hannema, Sabine E. 分享 收藏 Clinical and Molecular Genetic Characteristics of Patients with Hereditary HypophosphatemiaEltan, Mehmet; Alavanda, Ceren; Abali, Zehra Yavas; Tosun, Busra Gurpinar; Kurt, Ilknur; Kirkgoz, Tarik; Guven, Sercin; Kaygusuz, Sare Betul; Abali, Saygin; Helvacioglu, Didem; Guran, Tulay; Gokce, Ibrahim; Arman, Ahmet; Bereket, Abdullah; Ata, Pinar; Turan, Serap 分享 收藏 Factors influencing survival in sphingosine phosphate lyase insufficiency syndrome: a retrospective cross-sectional natural history study of 76 patientsKeller, Nancy; Midgley, Julian; Khalid, Ehtesham; Lesmana, Harry; Mathew, Georgie; Mincham, Christine; Teig, Norbert; Khan, Zubair; Khosla, Indu; Mehr, Sam; Guran, Tulay; Buder, Kathrin; Xu, Hong; Alhasan, Khalid; Buyukyilmaz, Gonul; Weaver, Nicole; Saba, Julie D. 分享 收藏 Temporal Trends in Acute Adrenal Insufficiency Events in Children With Congenital Adrenal Hyperplasia During 2019-2022Tseretopoulou, Xanthippi; Ali, Salma R.; Bryce, Jillian; Amin, Nadia; Atapattu, Navoda; Bachega, Tania A. S. S.; Baronio, Federico; Ortolano, Rita; Birkebaek, Niels H.; Bonfig, Walter; Cools, Martine; Davies, Justin H.; Thomas, Tessy; de Vries, Liat; Elsedfy, Heba; Amr, Nermine H.; Flueck, Christa E.; Globa, Evgenia; Guran, Tulay; Yavas-Abali, Zehra; Guven, Ayla; Hannema, Sabine E.; Iotova, Violeta; Konrad, Daniel; Lenherr-Taube, Nina; Krone, Nils P.; Leka-Emiri, Sofia; Vlachopapadopoulou, Elpis; Lichiardopol, Corina; Marginean, Otilia; Markosyan, Renata; Neumann, Uta; Niedziela, Marek; Banaszak-Ziemska, Magdalena; Phan-Hug, Franziska; Poyrazoglu, Sukran; Probst-Scheidegger, Ursina; Randell, Tabitha; Russo, Gianni; Salerno, Mariacarolina; Seneviratne, Sumudu; Shnorhavorian, Margarett; Thankamony, Ajay; Tadokoro-Curraro, Rieko; van den Akker, Erica; van Eck, Judith; Vieites, Ana; Wasniewska, Malgorzata; Ahmed, S. Faisal 分享 收藏 17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohortSiklar, 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 Assessment of prognostic factors in pediatric adrenocortical tumors: the modified pediatric S-GRAS score in an international multicenter cohort-a work from the ENSAT-PACT working groupRiedmeier, Maria; Agarwal, Shipra; Antonini, Sonir; Costa, Tatiana E. I. Jaick B.; Diclehan, Orhan; Fassnacht, Martin; Figueiredo, Bonald C.; Guran, Tulay; Haertel, Christoph; Haubitz, Imme; Idkowiak, Jan; Kuhlen, Michaela; Noronha, Lucia; Parise, Ivy Zortea S.; Redlich, Antje; Puglisi, Soraya; Saniye, Ekinci; Schlegel, Paul-Gerhardt; Yalcin, Bilgehan; Wiegering, Verena 分享 收藏 
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