POU6F2 mutation in humans with pubertal failure alters GnRH transcript expression
Cho, Hyun-Ju, Gurbuz, Fatih, Stamou, Maria, Kotan, Leman Damla, Farmer, Stephen Matthew, Can, Sule, Tompkins, Miranda Faith, Mammadova, Jamala, Altincik, S Ayca, Gokce, Cumali, Catli, Gonul, Bugrul, Fuat, Bartlett, Keenan, Turan, Ihsan, Balasubramanian, Ravikumar, Yuksel, Bilgin, Seminara, Stephanie B, Wray, Susan, Topaloglu, A Kemal
Published in Frontiers in endocrinology (Lausanne) (01.08.2023)
Published in Frontiers in endocrinology (Lausanne) (01.08.2023)
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Journal Article
Prevalence of ZnT8 Antibody in Turkish Children and Adolescents with New Onset Type 1 Diabetes
Elmaoğulları, Selin, Uçaktürk, Seyit Ahmet, Elbeg, Şehri, Döğer, Esra, Tayfun, Meltem, Gürbüz, Fatih, Bideci, Aysun
Published in Journal of clinical research in pediatric endocrinology (01.06.2018)
Published in Journal of clinical research in pediatric endocrinology (01.06.2018)
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Journal Article
Unusual and early onset IPEX syndrome: a case report
Doğruel, Dilek, Gürbüz, Fatih, Turan, İhsan, Altıntaş, Derya Ufuk, Yılmaz, Mustafa, Yüksel, Bilgin
Published in Turkish journal of pediatrics (01.07.2019)
Published in Turkish journal of pediatrics (01.07.2019)
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Journal Article
Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families
Demirbilek, Huseyin, Ozbek, M. Nuri, Demir, Korcan, Kotan, L. Damla, Cesur, Yasar, Dogan, Murat, Temiz, Fatih, Mengen, Eda, Gurbuz, Fatih, Yuksel, Bilgin, Topaloglu, A. Kemal
Published in Clinical endocrinology (Oxford) (01.03.2015)
Published in Clinical endocrinology (Oxford) (01.03.2015)
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Journal Article
Wolcott-Rallison Syndrome with Novel EIF2AK3 Gene Mutation
Gurbuz, Fatih, Yuksel, Bilgin, Topaloglu, Ali Kemal
Published in Journal of clinical research in pediatric endocrinology (01.12.2016)
Published in Journal of clinical research in pediatric endocrinology (01.12.2016)
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Journal Article
Investigation of environmental knowledge and environmental education self-efficacy levels of science teachers and teachers candidates: Fen bilimleri öğretmenlerinin ve öğretmen adaylarının çevre bilgi ve çevre eğitimi öz-yeterlik düzeylerinin incelenmesi
GÜRBÜZ, Fatih, KONAKCI, Akın Aykut
Published in International journal of human sciences (22.01.2020)
Published in International journal of human sciences (22.01.2020)
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Journal Article
A Novel Homozygous Mutation in the KCNJ11 Gene of a Neonate with Congenital Hyperinsulinism and Successful Management with Sirolimus
Ünal, Sevim, Gönülal, Deniz, Uçaktürk, Ahmet, Siyah Bilgin, Betül, Flanagan, Sarah E, Gürbüz, Fatih, Tayfun, Meltem, Elmaoğulları, Selin, Araslı, Aslıhan, Demirel, Fatma, Ellard, Sian, Hussain, Khalid
Published in Journal of clinical research in pediatric endocrinology (01.12.2016)
Published in Journal of clinical research in pediatric endocrinology (01.12.2016)
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Journal Article
Results of Educations in a Pediatrics Hospital Aiming to Prevent Contamination of Blood Culture
İrfan Oğuz Şahin, Ayşegül Elbir Şahin, Deniz Ökdemir, Fatih Gürbüz, Hatice Şanlı Güneş
Published in Van Tıp Dergisi (01.01.2018)
Published in Van Tıp Dergisi (01.01.2018)
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Journal Article
Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis
Gürbüz, Fatih, Özalp Yüreğir, Özge, Ceylaner, Serdar, Topaloğlu, Ali Kemal, Yüksel, Bilgin
Published in Journal of clinical research in pediatric endocrinology (01.03.2016)
Published in Journal of clinical research in pediatric endocrinology (01.03.2016)
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Journal Article
Endocrine Complications in Thalassemia Major
Kilinc, Yurdanur, Leblebisatan, Goksel, Cil, Metin, Gürbüz, Fatih, Sasmaz, Hatice Ilgen, Tuncel, Defne Ay
Published in Blood (08.12.2017)
Published in Blood (08.12.2017)
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Journal Article
The first report of cabergoline-induced immune hemolytic anemia in an adolescent with prolactinoma
Gürbüz, Fatih, Yağcı-Küpeli, Begül, Kör, Yılmaz, Yüksel, Bilgin, Zorludemir, Suzan, Gürbüz, Berrak Bilginer, Küpeli, Serhan
Published in Journal of Pediatric Endocrinology and Metabolism (01.01.2014)
Published in Journal of Pediatric Endocrinology and Metabolism (01.01.2014)
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Journal Article
The Novel Mutation p.Trp147Arg of the Steroidogenic Acute Regulatory Protein Causes Classic Lipoid Congenital Adrenal Hyperplasia with Adrenal Insufficiency and 46,XY Disorder of Sex Development
Yüksel, Bilgin, Kulle, Alexandra E., Gürbüz, Fatih, Welzel, Maik, Kotan, Damla, Mengen, Eda, Holterhus, Paul-Martin, Topaloğlu, Ali Kemal, Grötzinger, Joachim, Riepe, Felix G.
Published in Hormone research in paediatrics (01.01.2013)
Published in Hormone research in paediatrics (01.01.2013)
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Journal Article
Wolcott-Rallison Syndrome
Gürbüz, Fatih, Yüksel, Bilgin, Topaloglu, Ali Kemal
Published in Journal of clinical research in pediatric endocrinology (01.09.2015)
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Published in Journal of clinical research in pediatric endocrinology (01.09.2015)
Journal Article
Hyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation in GALNT3 gene: Experience from Southern Turkey
Kışla Ekinci, Rabia Miray, Gürbüz, Fatih, Balcı, Sibel, Bisgin, Atıl, Taştan, Mehmet, Yüksel, Bilgin, Yılmaz, Mustafa
Published in Journal of clinical research in pediatric endocrinology (17.07.2018)
Published in Journal of clinical research in pediatric endocrinology (17.07.2018)
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Journal Article