Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants
Guran, Tulay, Tezel, Basak, Cakir, Meltem, Akinci, Aysehan, Orbak, Zerrin, Keskin, Mehmet, Eklioglu, Beray Selver, Ozon, Alev, Ozbek, Mehmet Nuri, Karaguzel, Gulay, Hatipoglu, Nihal, Gurbuz, Fatih, Cizmecioglu, Filiz Mine, Kara, Cengiz, Simsek, Enver, Bas, Firdevs, Aydin, Murat, Darendeliler, Feyza
Published in Journal of clinical research in pediatric endocrinology (01.09.2020)
Published in Journal of clinical research in pediatric endocrinology (01.09.2020)
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Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants
Güran, Tülay, Tezel, Başak, Gürbüz, Fatih, Selver Eklioğlu, Beray, Hatipoğlu, Nihal, Kara, Cengiz, Şimşek, Enver, Çizmecioğlu, Filiz Mine, Ozon, Alev, Baş, Firdevs, Aydın, Murat, Darendeliler, Feyza
Published in Journal of clinical research in pediatric endocrinology (01.03.2019)
Published in Journal of clinical research in pediatric endocrinology (01.03.2019)
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Gender Identity and Assignment Recommendations in Disorders of Sex Development (DSD) Patients: 20 years’ Experience and Challenges
Gurbuz, Fatih, Alkan, Murat, Celik, Gonca, Bisgin, Atil, Cekin, Necmi, Unal, Ilker, Topaloglu, Ali Kemal, Zorludemir, Unal, Avci, Ayse, Yuksel, Bilgin
Published in Journal of clinical research in pediatric endocrinology (01.12.2020)
Published in Journal of clinical research in pediatric endocrinology (01.12.2020)
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Evaluating Postoperative Outcomes and Investigating the Usefulness of EU-TIRADS Scoring in Managing Pediatric Thyroid Nodules Bethesda 3 and 4
Kılınç Uğurlu, Aylin, Bitkay, Abdurrahman, Gürbüz, Fatih, Karakuş, Esra, Bayram Ilıkan, Gülşah, Damar, Çağrı, Şahin, Seda, Kıran, Merve Meryem, Gülaldı, Nedim, Azılı, Müjdem Nur, Şenel, Emrah, Ergürhan İlhan, İnci, Boyraz, Mehmet
Published in Journal of clinical research in pediatric endocrinology (01.06.2024)
Published in Journal of clinical research in pediatric endocrinology (01.06.2024)
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Hyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation in GALNT3 Gene: Experience from Southern Turkey
Ekinci, Rabia Miray Kisla, Gurbuz, Fatih, Balci, Sibel, Bisgin, Atil, Tastan, Mehmet, Yuksel, Bilgin, Yilmaz, Mustafa
Published in Journal of clinical research in pediatric endocrinology (01.03.2019)
Published in Journal of clinical research in pediatric endocrinology (01.03.2019)
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Clinical Characteristics of 46,XX Males with Congenital Adrenal Hyperplasia
Savaş-Erdeve, Şenay, Aycan, Zehra, Çetinkaya, Semra, Öztürk, Ayşe Pınar, Baş, Firdevs, Poyrazoğlu, Şükran, Darendeliler, Feyza, Özsu, Elif, Şıklar, Zeynep, Demiral, Meliha, Unal, Edip, Özbek, Mehmet Nuri, Gürbüz, Fatih, Yüksel, Bilgin, Evliyaoğlu, Olcay, Akyürek, Nesibe, Berberoğlu, Merih
Published in Journal of clinical research in pediatric endocrinology (01.06.2021)
Published in Journal of clinical research in pediatric endocrinology (01.06.2021)
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Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations
Akkuş, Gamze, Kotan, Leman Damla, Durmaz, Erdem, Mengen, Eda, Turan, İhsan, Ulubay, Ayça, Gürbüz, Fatih, Yüksel, Bilgin, Tetiker, Tamer, Topaloğlu, A Kemal
Published in Journal of clinical research in pediatric endocrinology (01.06.2017)
Published in Journal of clinical research in pediatric endocrinology (01.06.2017)
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Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1
Kotan, Leman Damla, Cooper, Charlton, Darcan, Şükran, Carr, Ian M, Özen, Samim, Yan, Yi, Hamedani, Mohammad K, Gürbüz, Fatih, Mengen, Eda, Turan, İhsan, Ulubay, Ayça, Akkuş, Gamze, Yüksel, Bilgin, Topaloğlu, A Kemal, Leygue, Etienne
Published in Journal of clinical research in pediatric endocrinology (01.06.2016)
Published in Journal of clinical research in pediatric endocrinology (01.06.2016)
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Journal Article
Idiopathic Hypogonadotrophic Hypogonadism Caused by Inactivating Mutations in SRA1
Ulubay, Ayca, Kotan, L. Damla, Cooper, Charlton, Darcan, Sukran, Carr, Ian M, Ozen, Samim, Yan, Yi, Hamedani, Mohammad K, Gurbuz, Fatih, Mengen, Eda, Turan, Ihsan, Akkus, Gamze, Yuksel, Bilgin, Leygue, Etienne, Topaloglu, A. Kemal
Published in Journal of clinical research in pediatric endocrinology (01.06.2016)
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Published in Journal of clinical research in pediatric endocrinology (01.06.2016)
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Inactivating KISS1 Mutation and Hypogonadotropic Hypogonadism
Topaloglu, A. Kemal, Tello, Javier A, Kotan, L. Damla, Ozbek, Mehmet N, Yilmaz, M. Bertan, Erdogan, Seref, Gurbuz, Fatih, Temiz, Fatih, Millar, Robert P, Yuksel, Bilgin
Published in The New England journal of medicine (16.02.2012)
Published in The New England journal of medicine (16.02.2012)
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Changes in the presentation of newly diagnosed type 1 diabetes in children during the COVID-19 pandemic in a tertiary center in Southern Turkey
Dilek, Semine Özdemir, Gürbüz, Fatih, Turan, İhsan, Celiloğlu, Can, Yüksel, Bilgin
Published in Journal of Pediatric Endocrinology & Metabolism (26.10.2021)
Published in Journal of Pediatric Endocrinology & Metabolism (26.10.2021)
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Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism
Gürbüz, Fatih, Kotan, L Damla, Mengen, Eda, Şıklar, Zeynep, Berberoğlu, Merih, Dökmetaş, Sebila, Kılıçlı, Mehmet Fatih, Güven, Ayla, Kirel, Birgül, Saka, Nurçin, Poyrazoğlu, Şükran, Cesur, Yaşar, Doğan, Murat, Özen, Samim, Özbek, Mehmet Nuri, Demirbilek, Hüseyin, Kekil, M Burcu, Temiz, Fatih, Önenli Mungan, Neslihan, Yüksel, Bilgin, Topaloğlu, Ali Kemal
Published in Journal of clinical research in pediatric endocrinology (01.09.2012)
Published in Journal of clinical research in pediatric endocrinology (01.09.2012)
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DLG2 Mutations in the Etiology of Pubertal Delay and Idiopathic Hypogonadotropic Hypogonadism
Turan, Ihsan, Demir, Korcan, Mengen, Eda, Kotan, Leman Damla, Gürbüz, Fatih, Yüksel, Bilgin, Topaloglu, Ali Kemal
Published in Hormone research in paediatrics (01.02.2022)
Published in Hormone research in paediatrics (01.02.2022)
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Kronik karaciğer hastalığı olan çocukların D vitamini düzeyleri
Gürbüz, Fatih, Ağın, Mehmet, Mengen, Eda, Elçi, Hüseyin, Ünal, İlker, Tümgör, Gökhan, Yüksel, Bilgin
Published in Cukurova Medical Journal (31.12.2018)
Published in Cukurova Medical Journal (31.12.2018)
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Mutations within The Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency
Bulut, Fatma Derya, Özdemir Dilek, Semine, Kotan, Damla, Mengen, Eda, Gürbüz, Fatih, Yüksel, Bilgin
Published in Journal of clinical research in pediatric endocrinology (01.09.2020)
Published in Journal of clinical research in pediatric endocrinology (01.09.2020)
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Inactivating NHLH2 variants cause idiopathic hypogonadotropic hypogonadism and obesity in humans
Topaloglu, A. Kemal, Simsek, Enver, Kocher, Matthew A., Mammadova, Jamala, Bober, Ece, Kotan, Leman Damla, Turan, Ihsan, Celiloglu, Can, Gurbuz, Fatih, Yuksel, Bilgin, Good, Deborah J.
Published in Human genetics (01.02.2022)
Published in Human genetics (01.02.2022)
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CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration
Hutchins, B. Ian, Kotan, L. Damla, Taylor-Burds, Carol, Ozkan, Yusuf, Cheng, Paul J, Gurbuz, Fatih, Tiong, Jean D. R, Mengen, Eda, Yuksel, Bilgin, Topaloglu, A. Kemal, Wray, Susan
Published in Endocrinology (Philadelphia) (01.05.2016)
Published in Endocrinology (Philadelphia) (01.05.2016)
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Loss-of-function variants in SEMA3F and PLXNA3 encoding semaphorin-3F and its receptor plexin-A3 respectively cause idiopathic hypogonadotropic hypogonadism
Kotan, Leman Damla, Ternier, Gaetan, Cakir, Aydilek Dagdeviren, Emeksiz, Hamdi Cihan, Turan, Ihsan, Delpouve, Gaspard, De Kardelen, Asli rya, Ozcabi, Bahar, Isik, Emregul, Mengen, Eda, De Cakir, Esra niz P., Yuksel, Aysegul, Agladioglu, Sebahat Yilmaz, Dilek, Semine Ozdemir, Evliyaoglu, Olcay, Darendeliler, Feyza, Gurbuz, Fatih, Akkus, Gamze, Yuksel, Bilgin, Giacobini, Paolo, Topaloglu, A. Kemal
Published in Genetics in medicine (01.06.2021)
Published in Genetics in medicine (01.06.2021)
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Novel sphingosine-1-phosphate lyase mutation causes multisystemic diseases: case report
Büyükyılmaz, Gönül, Adıgüzel, Keziban Toksoy, Aksoy, Özlem Yüksel, Kasapkara, Çiğdem Seher, Demir, Gizem Ürel, Demir, Engin, Ergun, Şule Berk, Gürbüz, Fatih, Boyraz, Mehmet
Published in The Turkish journal of pediatrics (01.11.2023)
Published in The Turkish journal of pediatrics (01.11.2023)
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