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Recessive TMEM167A variants cause neonatal diabetes, microcephaly, and epilepsy syndrome Virgilio, Enrico; Tielens, Sylvia; Bonfield, Georgia; Nian, Fang-Shin; Sawatani, Toshiaki; Vinci, Chiara; Govier, Molly; Montaser, Hossam; Lartigue, Romane; Arunagiri, Anoop; Liboz, Alexandrine; Da Silva, Flavia Natividade; Lytrivi, Maria; Papadopoulou, Theodora; Wakeling, Matthew N.; Russ-Silsby, James; Bowman, Pamela; Johnson, Matthew B.; Laver, Thomas W.; Piron, Anthony; Yi, Xiaoyan; Fantuzzi, Federica; Hendrickx, Sirine; Igoillo-Esteve, Mariana; Santacreu, Bruno J.; Suntharesan, Jananie; Ghildiyal, Radha; Hegde, Darshan; Shah, Nikhil; Acar, Sezer; Donmez, Beyhan Ozkaya; Ozkan, Behzat; Mohsin, Fauzia; Talaat, Iman M.; Abbas, Mohamed Tarek; Abbas, Omar Tarek; Alghamdi, Hamed Ali; Kandemir, Nurgun; Flanagan, Sarah E.; Scharfmann, Raphael; Arvan, Peter; Raoux, Matthieu; Nguyen, Laurent; Hattersley, Andrew T.; Cnop, Miriam; De Franco, Elisa 分享 收藏
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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
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Screening of 23 candidate genes by next-generation sequencing of patients with permanent congenital hypothyroidism: novel variants in TG, TSHR, DUOX2, FOXE1, and SLC26A7 Acar, S.; Gursoy, S.; Arslan, G.; Nalbantoglu, O.; Hazan, F.; Koprulu, O.; Ozkaya, B.; Ozkan, B. 分享 收藏
Evaluation of predictors of severe-moderate COVID-19 infections at children: A review of 292 children Kara, Aybuke A.; Boncuoglu, Elif; Kiymet, Elif; Arikan, Kamile O.; Sahinkaya, Sahika; Duzgol, Mine; Cem, Ela; Celebi, MIray; Agin, Hasan; Bayram, Suleyman N.; Ozkan, Behzat; Devrim, Ilker 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
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Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features Arman, Ahmet; Bereket, Abdullah; Coker, Ajda; Kiper, Pelin Ozlem Simsek; Guran, Tulay; Ozkan, Behzat; Atay, Zeynep; Akcay, Teoman; Haliloglu, Belma; Boduroglu, Koray; Alanay, Yasemin; Turan, Serap 分享 收藏
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