المؤلفون: Cangül, Hakan, Demir, Korcan, Babayiğit, Ömür, Abacı, Ayhan, Böber, Ece

مصطلحات موضوعية: Congenital Hypothyroidism, Thyroid Dyshormonogenesis, Thyroid Peroxidase

وصف الملف: application/pdf

العلاقة: Journal of Clinical Research in Pediatric Endocrinology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Cangül, H., Demir, K., Babayiğit, Ö., Abacı, A. ve Böber, E. (2015). The missense alteration A5T of the thyroid peroxidase gene is pathogenic and associated with mild congenital hypothyroidism. Journal of Clinical Research in Pediatric Endocrinology, 7(3), 238-241. https://dx.doi.org/10.4274/jcrpe.2017Test; https://dx.doi.org/10.4274/jcrpe.2017Test; https://hdl.handle.net/20.500.12511/3038Test; 238; 241; Q3; Q2

الإتاحة: https://doi.org/20.500.12511/3038Test
https://doi.org/10.4274/jcrpe.2017Test
https://hdl.handle.net/20.500.12511/3038Test

المؤلفون: Güçlü, Metin, Cangül, Hakan, Ersoy, Canan

مصطلحات موضوعية: Apeced, APS I, Hypoparathyroidism, Candidiasis, AIRE Gene, OPS I, Hipoparatiroidizm, Kandidiyazis, AIRE Geni

وصف الملف: application/pdf

العلاقة: Turkish Journal of Endocrinology and Metabolism; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Güçlü, M., Cangül, H. ve Ersoy, C. (2015). Strong similarities in Turkish and European patients diagnosed with APECED syndrome. Turkish Journal of Endocrinology and Metabolism, 19(3), 89-92. https://dx.doi.org/10.4274/tjem.2987Test; https://dx.doi.org/10.4274/tjem.2987Test; https://hdl.handle.net/20.500.12511/3925Test; 19; 89; 92; Q4

الإتاحة: https://doi.org/20.500.12511/3925Test
https://doi.org/10.4274/tjem.2987Test
https://hdl.handle.net/20.500.12511/3925Test

المؤلفون: Cangül, Hakan, Doğan, Murat, Üstek, Duran

مصطلحات موضوعية: Thyroid Peroxidase, Gene, Mutation, Genetics, Molecular, Congenital Hypothyroidism, Thyroid Dyshormonogenesis

وصف الملف: application/pdf

العلاقة: Journal of Clinical Research in Pediatric Endocrinology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Cangül, H., Doğan, M. ve Üstek, D. (2015). A homozygous nonsense thyroid peroxidase mutation (R540X) consistently causes congenital hypothyroidism in two siblings born to a consanguineous family.Journal of Clinical Research in Pediatric Endocrinology, 7(4), 323-328. https://dx.doi.org/10.4274/jcrpe.1920Test; https://dx.doi.org/10.4274/jcrpe.1920Test; https://hdl.handle.net/20.500.12511/3037Test; 323; 328; Q3; Q2

الإتاحة: https://doi.org/20.500.12511/3037Test
https://doi.org/10.4274/jcrpe.1920Test
https://hdl.handle.net/20.500.12511/3037Test