المؤلفون: Boisson, Stephanie Dupuis, Kreins, Alexandra Y., Grant, Audrey V., Abel, Laurent, Casanova, Jean-Laurent

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı., orcid:0000-0001-8571-2581, Kılıç, Sara Şebnem, Hacımustafaoğlu, Mustafa, AAH-1658-2021, 34975059200, 6602154166

مصطلحات موضوعية: Pediatrics, Mutations, Immunity, Dock8, Child, Diagnosis, differential, Follow-up studies, Humans, Immunologic deficiency syndromes, Job's syndrome, Magnetic resonance imaging, Male, Tyk2 kinase, Job Syndrome, Mucocutaneous Candidiasis, Gain of Function Mutation, Aciclovir, Bcg vaccine, Cefuroxime, Clindamycin, Cotrimoxazole, Focal adhesion kinase 1, Immunoglobulin e, Isoniazid, Pyrazinamide, Rifampicin, Streptomycin, Adult, Anamnesis

وصف الملف: application/pdf

العلاقة: Makale - Uluslararası Hakemli Dergi; Journal of Pediatrics; Yurt dışı; Sanayi; Kılıç, S. Ş. vd. (2012). "A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome". Journal of Pediatrics, 160(6), 1055-1057.; https://doi.org/10.1016/j.jpeds.2012.01.056Test; https://www.sciencedirect.com/science/article/pii/S002234761200114XTest; https://pubmed.ncbi.nlm.nih.gov/22402565Test/; http://hdl.handle.net/11452/22929Test; 000304377300034; 2-s2.0-84860015114; 1055; 1057; 160

الإتاحة: https://doi.org/10.1016/j.jpeds.2012.01.056Test
http://hdl.handle.net/11452/22929Test
https://www.sciencedirect.com/science/article/pii/S002234761200114XTest
https://pubmed.ncbi.nlm.nih.gov/22402565Test/

المؤلفون: Boisson, Stephanie Dupuis, Kreins, Alexandra Y., Grant, Audrey V., Abel, Laurent, Casanova, Jean-Laurent

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı., orcid:0000-0001-8571-2581, Kılıç, Sara Şebnem, Hacımustafaoğlu, Mustafa, AAH-1658-2021, 34975059200, 6602154166

مصطلحات موضوعية: Pediatrics, Mutations, Immunity, Dock8, Child, Diagnosis, differential, Follow-up studies, Humans, Immunologic deficiency syndromes, Job's syndrome, Magnetic resonance imaging, Male, Tyk2 kinase, Job Syndrome, Mucocutaneous Candidiasis, Gain of Function Mutation, Aciclovir, Bcg vaccine, Cefuroxime, Clindamycin, Cotrimoxazole, Focal adhesion kinase 1, Immunoglobulin e, Isoniazid, Pyrazinamide, Rifampicin, Streptomycin, Adult, Anamnesis

وصف الملف: application/pdf

العلاقة: Makale - Uluslararası Hakemli Dergi; Journal of Pediatrics; Yurt dışı; Sanayi; Kılıç, S. Ş. vd. (2012). "A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome". Journal of Pediatrics, 160(6), 1055-1057.; https://doi.org/10.1016/j.jpeds.2012.01.056Test; https://www.sciencedirect.com/science/article/pii/S002234761200114XTest; https://pubmed.ncbi.nlm.nih.gov/22402565Test/; http://hdl.handle.net/11452/22929Test; 000304377300034; 2-s2.0-84860015114; 1055; 1057; 160

الإتاحة: https://doi.org/10.1016/j.jpeds.2012.01.056Test
http://hdl.handle.net/11452/22929Test
https://www.sciencedirect.com/science/article/pii/S002234761200114XTest
https://pubmed.ncbi.nlm.nih.gov/22402565Test/

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

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

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

الإتاحة: https://doi.org/10.1007/s10157-010-0367-zTest
http://hdl.handle.net/11452/24513Test

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

الإتاحة: https://doi.org/10.1007/s10157-010-0367-zTest
http://hdl.handle.net/11452/24513Test