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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 Base excess is superior to creatinine in predicting hemodialysis: A multicenter study conducted Kahramanmaraş earthquake victims碱剩余优于肌酐预测血液透析：一项在卡赫拉曼马拉什地震幸存者中进行的多中心研究Guven, R; Avci, A; Korkut, S; Altug, E; Cakir, A; Sogut, O; Dogan, S; Avsar, M; Alay, GH; Yilmaz, G 分享 收藏 Phenotypic and mutational spectrum of ROR2-related Robinow syndromeLima, Ariadne R.; Ferreira, Barbara M.; Zhang, Chaofan; Jolly, Angad; Du, Haowei; White, Janson J.; Dawood, Moez; Lins, Tulio C.; Chiabai, Marcela A.; Beusekom, Ellen; Cordoba, Mara S.; Rosa, Erica C. C. Caldas; Kayserili, Hulya; Kimonis, Virginia; Wu, Erica; Mellado, Cecilia; Aggarwal, Vineet; Richieri-Costa, Antonio; Brunoni, Decio; Cano, Talyta M.; Jorge, Alexander A. L.; Kim, Chong A.; Honjo, Rachel; Bertola, Debora R.; Dandalo-Girardi, Raissa M.; Bayram, Yavuz; Gezdirici, Alper; Yilmaz-Gulec, Elif; Gumus, Evren; Yilmaz, Gulay C.; Okamoto, Nobuhiko; Ohashi, Hirofumi; Coban-Akdemir, Zeynep; Mitani, Tadahiro; Jhangiani, Shalini N.; Muzny, Donna M.; Regattieri, Neysa A. P.; Pogue, Robert; Pereira, Rinaldo W.; Otto, Paulo A.; Gibbs, Richard A.; Ali, Bassam R.; Bokhoven, Hans; Brunner, Han G.; Sutton, V. Reid; Lupski, James R.; Vianna-Morgante, Angela M.; Carvalho, Claudia M. B.; Mazzeu, Juliana F. 分享 收藏 Revisiting Classical 3β-hydroxysteroid Dehydrogenase 2 Deficiency: Lessons from 31 Pediatric CasesGuran, Tulay; Kara, Cengiz; Yildiz, Melek; Bitkin, Eda C.; Haklar, Goncagul; Lin, Jen-Chieh; Keskin, Mehmet; Barnard, Lise; Anik, Ahmet; Catli, Gonul; Guven, Ayla; Kirel, Birgul; Tutunculer, Filiz; Onal, Hasan; Turan, Serap; Akcay, Teoman; Atay, Zeynep; Yilmaz, Gulay C.; Mamadova, Jamala; Akbarzade, Azad; Sirikci, Onder; Storbeck, Karl-Heinz; Baris, Tugba; Chung, Bon-Chu; Bereket, Abdullah 分享 收藏 
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