المؤلفون: Cangül, Hakan, Schoenmakers, Nadia A., Saǧlam, Yaman, Kendall, Michaela, Timothy Barrett, Timothy, Chatterjee, Krish, Mäher, Eamonn Richard

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Endokrinoloji Anabilim Dalı., orcid:0000-0003-0710-5422, orcid:0000-0002-1684-1053, Saǧlam, Halil, Doğanlar, Durmuş, Eren, Erdal, Tarım, Ömer Faruk, C-7392-2019, AAH-1155-2021, 35612700100, 56363214600, 36113153400, 6701427186

مصطلحات موضوعية: Congenital hypothyroidism, Gene, Genetics, Thyrotropin receptor, Mutation, Thyroid dysgenesis, TSHR gene, Glycoprotein hormone-receptors, Thyrotropin-receptor, Complex, Consanguineous families, Heterogeneity, Stimulating-hormone, Resistance, Mutations, Locus, Endocrinology & metabolism, Pediatrics, Adolescent, Child, preschool, Consanguinity, Exons, Female, Humans, Infant, newborn, Receptors, thyrotropin, Reverse transcriptase polymerase chain reaction

العلاقة: Makale - Uluslararası Hakemli Dergi; Journal of Pediatric Endocrinology and Metabolism; Yurt içi; Yurt dışı; Sanayi; Cangül, H. vd. (2014). "A deletion including exon 2 of the TSHR gene is associated with thyroid dysgenesis and severe congenital hypothyroidism". Journal of Pediatric Endocrinology and Metabolism, 27(7-8), 731-735.; https://hdl.handle.net/11452/40145Test; 000338839500023; 2-s2.0-84906985254; 731; 735; 27; 7-8; https://doi.org/10.1515/jpem-2014-0011Test

الإتاحة: https://doi.org/10.1515/jpem-2014-0011Test
https://hdl.handle.net/11452/40145Test

المؤلفون: Cangül, Hakan, Aycan, Zehra, Nappa, Alvaro Olivera, Schoenmakers, Nadia A., Boelaert, Kristien, Çetinkaya, Semra Çaǧlar, Böber, Ece, Darendeliler, Feyza F., Baş, Veysel Nijat, Demir, Korcan

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik Endokrinoloji Anabilim Dalı., orcid:0000-0003-0710-5422, Saǧlam, Halil, Tarım, Ömer Faruk, C-7392-2019, 35612700100, 6701427186

مصطلحات موضوعية: Endocrinology & metabolism, Congenital goitrous hypothyroidism, Peroxidase gene, Goiter, Identification, Phenomics, Defects, Adolescent, Adult, Child, preschool, Congenital hypothyroidism, Consanguinity, Female, Infant, Humans, newborn, Lodide peroxidase, Male, Mutation, missense, Pakistan, Thyroid hormones, Turkey, Thyroid Dysgenesis, Diiodotyrosine, Levothyroxine, Pendrin, Sodium iodide symporter, Thyroglobulin

العلاقة: Makale - Uluslararası Hakemli Dergi; Clinical Endocrinology; Yurt içi; Yurt dışı; Sanayi; Cangül, H. vd. (2011). "Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community". Clinical Endocrinology, 79(2), 275-281.; https://doi.org/10.1111/cen.12127Test; http://hdl.handle.net/11452/28234Test; 000321570800020; 2-s2.0-84880072335; 275; 281; 79

الإتاحة: https://doi.org/10.1111/cen.12127Test
http://hdl.handle.net/11452/28234Test

المؤلفون: Cangül, Hakan, Aycan, Zehra, Nappa, Alvaro Olivera, Schoenmakers, Nadia A., Boelaert, Kristien, Çetinkaya, Semra Çaǧlar, Böber, Ece, Darendeliler, Feyza F., Baş, Veysel Nijat, Demir, Korcan

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik Endokrinoloji Anabilim Dalı., orcid:0000-0003-0710-5422, Saǧlam, Halil, Tarım, Ömer Faruk, C-7392-2019, 35612700100, 6701427186

مصطلحات موضوعية: Endocrinology & metabolism, Congenital goitrous hypothyroidism, Peroxidase gene, Goiter, Identification, Phenomics, Defects, Adolescent, Adult, Child, preschool, Congenital hypothyroidism, Consanguinity, Female, Infant, Humans, newborn, Lodide peroxidase, Male, Mutation, missense, Pakistan, Thyroid hormones, Turkey, Thyroid Dysgenesis, Diiodotyrosine, Levothyroxine, Pendrin, Sodium iodide symporter, Thyroglobulin

العلاقة: Makale - Uluslararası Hakemli Dergi; Clinical Endocrinology; Yurt içi; Yurt dışı; Sanayi; Cangül, H. vd. (2011). "Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community". Clinical Endocrinology, 79(2), 275-281.; https://doi.org/10.1111/cen.12127Test; http://hdl.handle.net/11452/28234Test; 000321570800020; 2-s2.0-84880072335; 275; 281; 79

الإتاحة: https://doi.org/10.1111/cen.12127Test
http://hdl.handle.net/11452/28234Test

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Üroloji Anabilim Dalı., Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı., Öztürk, Murat, Kordan, Yakup, Cangül, Hakan, Doğan, Hasan Serkan, Kılıçarslan, Hakan, Vuruşkan, Hakan, Oktay, Bülent, ABH-5513-2020, 56781010900, 9633365800, 8911611600, 7005856022, 56007473800, 6507328150, 6602172127

مصطلحات موضوعية: Calcium oxalate stone, Children, Gene polymorphism, Urokinase, Urology & nephrology, Plasminogen-activator expression, Sialidase activity, Kidney-stones, Pathogenesis, Receptor, Cancer, Disease, Adolescent, Calcium oxalate, Case-control studies, Chi-square distribution, Child, preschool, Female, Humans, Male, Polymerase chain reaction, Polymorphism, genetic, Recurrence, Urinary calculi, Urokinase-type plasminogen activator, Hypercalciuria, Nephrolithiasis, Vitamin D

العلاقة: Makale - Uluslararası Hakemli Dergi; International Urology and Nephrology; Öztürk, M. vd. (2008). "Association of urokinase gene 3 '-UTR T/C polymorphism with calcium oxalate urolithiasis in children". International Urology and Nephrology, 40(3), 563-568.; https://doi.org/10.1007/s11255-008-9335-xTest; https://link.springer.com/article/10.1007/s11255-008-9335-xTest; https://hdl.handle.net/11452/41005Test; 000258063200003; 2-s2.0-48549088426; 563; 568; 40

الإتاحة: https://doi.org/10.1007/s11255-008-9335-xTest
https://hdl.handle.net/11452/41005Test