-
1دورية أكاديمية
المؤلفون: Mazza, Cinzia, Buzi, Fabio, Ortolani, Federica, Vitali, Alberto, Notarangelo, Lucia D., Weber, Giovanna, Bacchetta, Rosa, Soresina, Annarosa, Lougaris, Vassilios, Greggio, Nella A., Taddio, Andrea, Pasic, Srdjan, de Vroede, Monique, Pac, Malgorzata, Özden, Sanal, Rusconi, Roberto, Martino, Silvana, Capalbo, Donatella, Salerno, Mariacarolina, Pignata, Claudio, Radetti, Giorgio, Maggiore, Giuseppe, Plebani, Alessandro, Notarangelo, Luigi D., Badolato, Raffaele
المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı., orcid:0000-0001-8571-2581, Kılıç, Sara Şebnem, AAH-1658-2021, 34975059200
مصطلحات موضوعية: Immunology, Autoimmunity, Candidiasis, Endocrinopathy, Regulator aire gene, Disease type-ı, Mutations, Autoantibodies, Protein, Common, Type-1, Adolescent, Adult, Child, preschool, Heterozygote, Homozygote, Humans, Middle aged, Mutation, Polyendocrinopathies, autoimmune, Time factors, Young adult, Type 1 Autoimmune Polyendocrinopathy Syndrome, Regulator, Central Tolerance, Autoimmune regulator protein, Article, Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy
وصف الملف: application/pdf
العلاقة: Makale - Uluslararası Hakemli Dergi; Clinical Immunology; Sanayi; Yurt dışı; Yurt içi; Mazza, C. vd. (2011). "Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome". Clinical Immunology, 139(1), 6-11.; https://doi.org/10.1016/j.clim.2010.12.021Test; https://www.sciencedirect.com/science/article/pii/S1521661611000039Test; http://hdl.handle.net/11452/29433Test; 000289183500002; 2-s2.0-79953025343; 11; 139
الإتاحة: https://doi.org/10.1016/j.clim.2010.12.021Test
http://hdl.handle.net/11452/29433Test
https://www.sciencedirect.com/science/article/pii/S1521661611000039Test -
2دورية أكاديمية
المؤلفون: Mazza, Cinzia, Buzi, Fabio, Ortolani, Federica, Vitali, Alberto, Notarangelo, Lucia D., Weber, Giovanna, Bacchetta, Rosa, Soresina, Annarosa, Lougaris, Vassilios, Greggio, Nella A., Taddio, Andrea, Pasic, Srdjan, de Vroede, Monique, Pac, Malgorzata, Özden, Sanal, Rusconi, Roberto, Martino, Silvana, Capalbo, Donatella, Salerno, Mariacarolina, Pignata, Claudio, Radetti, Giorgio, Maggiore, Giuseppe, Plebani, Alessandro, Notarangelo, Luigi D., Badolato, Raffaele
المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı., orcid:0000-0001-8571-2581, Kılıç, Sara Şebnem, AAH-1658-2021, 34975059200
مصطلحات موضوعية: Immunology, Autoimmunity, Candidiasis, Endocrinopathy, Regulator aire gene, Disease type-ı, Mutations, Autoantibodies, Protein, Common, Type-1, Adolescent, Adult, Child, preschool, Heterozygote, Homozygote, Humans, Middle aged, Mutation, Polyendocrinopathies, autoimmune, Time factors, Young adult, Type 1 Autoimmune Polyendocrinopathy Syndrome, Regulator, Central Tolerance, Autoimmune regulator protein, Article, Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy
وصف الملف: application/pdf
العلاقة: Makale - Uluslararası Hakemli Dergi; Clinical Immunology; Sanayi; Yurt dışı; Yurt içi; Mazza, C. vd. (2011). "Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome". Clinical Immunology, 139(1), 6-11.; https://doi.org/10.1016/j.clim.2010.12.021Test; https://www.sciencedirect.com/science/article/pii/S1521661611000039Test; http://hdl.handle.net/11452/29433Test; 000289183500002; 2-s2.0-79953025343; 11; 139
الإتاحة: https://doi.org/10.1016/j.clim.2010.12.021Test
http://hdl.handle.net/11452/29433Test
https://www.sciencedirect.com/science/article/pii/S1521661611000039Test -
3دورية أكاديمية
المؤلفون: Topaloğlu, Rezan, Baskın, Esra, Bahat, Elif, Kavukçu, Salih, Çakar, Nilgün, Güven, Ayfer Gür, Çalışkan, Salim, Erdoğan, Özlem, Yalçınkaya, Fatoş
المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik Nefroloji Anabilim Dalı., Dönmez, Osman, AAA-8778-2021, 19033971800
مصطلحات موضوعية: Urology & nephrology, Bartter's syndrome, Cystinosis, Demography, Failure to thrive, Features, Gitelman's syndrome, Hereditary renal tubular disorders, Prevalence, PRTA, Acidosis, Mutations, Deafness, Child, preschool, Consanguinity, Female, Humans, Infant, Kidney diseases, Kidney tubules, Male, Questionnaires, Turkey, Erythrocyte Anion Exchange Protein 1, Renal Tubular Acidosis, Kidney Calcification, Adolescent, Adult, Age distribution
العلاقة: Makale - Uluslararası Hakemli Dergi; Clinical and Experimental Nephrology; Yurt içi; Sanayi; Topaloğlu, R. vd. (2011). "Hereditary renal tubular disorders in Turkey: Demographic, clinical, and laboratory features". Clinical and Experimental Nephrology, 15(1), 108-113.; https://doi.org/10.1007/s10157-010-0367-zTest; https://link.springer.com/article/10.1007/s10157-010-0367-zTest; http://hdl.handle.net/11452/24513Test; 000287452800016; 2-s2.0-79952196349; 108; 113; 15
-
4دورية أكاديمية
المؤلفون: Topaloğlu, Rezan, Baskın, Esra, Bahat, Elif, Kavukçu, Salih, Çakar, Nilgün, Güven, Ayfer Gür, Çalışkan, Salim, Erdoğan, Özlem, Yalçınkaya, Fatoş
المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik Nefroloji Anabilim Dalı., Dönmez, Osman, AAA-8778-2021, 19033971800
مصطلحات موضوعية: Urology & nephrology, Bartter's syndrome, Cystinosis, Demography, Failure to thrive, Features, Gitelman's syndrome, Hereditary renal tubular disorders, Prevalence, PRTA, Acidosis, Mutations, Deafness, Child, preschool, Consanguinity, Female, Humans, Infant, Kidney diseases, Kidney tubules, Male, Questionnaires, Turkey, Erythrocyte Anion Exchange Protein 1, Renal Tubular Acidosis, Kidney Calcification, Adolescent, Adult, Age distribution
العلاقة: Makale - Uluslararası Hakemli Dergi; Clinical and Experimental Nephrology; Yurt içi; Sanayi; Topaloğlu, R. vd. (2011). "Hereditary renal tubular disorders in Turkey: Demographic, clinical, and laboratory features". Clinical and Experimental Nephrology, 15(1), 108-113.; https://doi.org/10.1007/s10157-010-0367-zTest; https://link.springer.com/article/10.1007/s10157-010-0367-zTest; http://hdl.handle.net/11452/24513Test; 000287452800016; 2-s2.0-79952196349; 108; 113; 15