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收藏Systemic secukinumab treatment in patients with ankylosing spondylitis: the relationship between systemic and tear proinflammatory cytokines and ocular surface findings-a pilot study系统性司库奇尤单抗治疗强直性脊柱炎患者:系统性与泪液中促炎细胞因子及眼表发现之间的关系——一项试点研究
Dikmetas, Ozlem; Kapucu, Yasemin; Cosan, Semih; Rustamova, Nargiz; Ozsoy, Zehra; Kocabeyoglu, Sibel; Kalyoncu, Umut; Tan, Cagman; Tezcan, Ilhan; Irkec, Murat
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收藏Defective kinase activity of IKKα leads to combined immunodeficiency and disruption of immune tolerance in humans
Cildir, Gokhan; Aba, Umran; Pehlivan, Damla; Tvorogov, Denis; Warnock, Nicholas I.; Ipsir, Canberk; Arik, Elif; Kok, Chung Hoow; Bozkurt, Ceren; Tekeoglu, Sidem; Inal, Gaye; Cesur, Mahmut; Kucukosmanoglu, Ercan; Karahan, Ibrahim; Savas, Berna; Balci, Deniz; Yaman, Ayhan; Demirbas, Nazli Deveci; Tezcan, Ilhan; Haskologlu, Sule; Dogu, Figen; Ikinciogullari, Aydan; Keskin, Ozlem; Tumes, Damon J.; Erman, Baran
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收藏Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye (vol 44, 157, 2024)通过全外显子组测序对临床诊断为先天性免疫缺陷的患者进行遗传评估: 来自t ü rkiye免疫缺陷专业研究中心的结果 (第44卷,157,2024)
Erman, Baran; Aba, Umran; Ipsir, Canberk; Pehlivan, Damla; Aytekin, Caner; Cildir, Gokhan; Cicek, Begum; Bozkurt, Ceren; Tekeoglu, Sidem; Kaya, Melisa; Aydogmus, Cigdem; Cipe, Funda; Sucak, Gulsan; Eltan, Sevgi Bilgic; Ozen, Ahmet; Baris, Safa; Karakoc-Aydiner, Elif; Kiykim, Ayca; Karaatmaca, Betul; Kose, Hulya; Uygun, Dilara Fatma Kocacik; Celmeli, Fatih; Arikoglu, Tugba; Ozcan, Dilek; Keskin, Ozlem; Arik, Elif; Aytekin, Elif Soyak; Cesur, Mahmut; Kucukosmanoglu, Ercan; Kilic, Mehmet; Yuksek, Mutlu; Bicakci, Zafer; Esenboga, Saliha; Ayvaz, Deniz cagdas; Sefer, Asena Pinar; Guner, Sukrue Nail; Keles, Sevgi; Reisli, Ismail; Musabak, Ugur; Demirbas, Nazli Deveci; Haskologlu, Sule; Kilic, Sara Sebnem; Metin, Ayse; Dogu, Figen; Ikinciogullari, Aydan; Tezcan, Ilhan
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收藏Human DNA-dependent protein kinase catalytic subunit deficiency: A comprehensive review and update
Adelon, Jihane; Abolhassani, Hassan; Esenboga, Saliha; Fouyssac, Fanny; Cagdas, Deniz; Tezcan, Ilhan; Kuskonmaz, Baris; Cetinkaya, Duygu; Suarez, Felipe; Mahdaviani, Seyed Alireza; Plassart, Samira; Mathieu, Anne-Laure; Fabien, Nicole; Malcus, Christophe; Morfin-Sherpa, Florence; Billaud, Genevieve; Tusseau, Maud; Benezech, Sarah; Walzer, Thierry; De Villartay, Jean-Pierre; Bertrand, Yves; Belot, Alexandre
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收藏Evaluation of patients with Primary Ciliary Dyskinesia in terms of humoral immunodeficiency
Buyuksahin, Halime Nayir; Emiralioglu, Nagehan; Caka, Canan; Esenboga, Saliha; Ayvaz, Deniz Cagdas; Atan, Raziye; Guzelkas, Ismail; Sunman, Birce; Alboga, Didem; Erdal, Meltem Akgul; Demir, Ipek; Capraz, Burcu; Yalcin, Ebru; Dogru, Deniz; Kiper, Nural; Tezcan, Ilhan; Ozcelik, Ugur
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收藏Newborn screening for SCID: the very first prospective pilot study from TürkiyeSCID的新生儿筛查: 来自t ü rkiye的第一个前瞻性试点研究
Haskologlu, Sule; Kocak, Senem; Tufan, Lale Satiroglu; Aksoy, Fethiye Eken; Bastug, Dilan; Oner, Deniz Aslar; Islamoglu, Candan; Baskin, Kubra; Esenboga, Saliha; Acican, Deniz; Ceylaner, Serdar; Guner, Sukru Nail; Keles, Sevgi; Cagdas, Deniz; Reisli, Ismail; Tezel, Basak; Dogu, Figen; Tezcan, Ilhan; Ikinciogullari, Aydan
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收藏A single center experience on PI3K/AKT/MTOR signaling defects: Towards pathogenicity assessment for four novel defects
Bildik, Hacer Neslihan; Esenboga, Saliha; Halacli, Sevil Oskay; Karaatmaca, Betuel; Aytekin, Elif Soyak; Nabiyeva, Nadira; Akarsu, Aysegul; Ocak, Melike; Erman, Baran; Tan, Cagman; Arikoglu, Tugba; Yaz, Ismail; Cicek, Begum; Tezcan, Ilhan; Cagdas, Deniz
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收藏Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye通过全外显子组测序对临床诊断为先天性免疫缺陷的患者进行遗传评估: 来自t ü rkiye免疫缺陷专业研究中心的结果
Erman, Baran; Aba, Umran; Ipsir, Canberk; Pehlivan, Damla; Aytekin, Caner; Cildir, Goekhan; Cicek, Begum; Bozkurt, Ceren; Tekeoglu, Sidem; Kaya, Melisa; Aydogmus, Cigdem; Cipe, Funda; Sucak, Gulsan; Eltan, Sevgi Bilgic; Ozen, Ahmet; Baris, Safa; Karakoc-Aydiner, Elif; Kiykim, Ayca; Karaatmaca, Betul; Kose, Hulya; Uygun, Dilara Fatma Kocacik; Celmeli, Fatih; Arikoglu, Tugba; Ozcan, Dilek; Keskin, Ozlem; Arik, Elif; Aytekin, Elif Soyak; Cesur, Mahmut; Kucukosmanoglu, Ercan; Kilic, Mehmet; Yuksek, Mutlu; Bicakci, Zafer; Esenboga, Saliha; Ayvaz, Deniz cagdas; Sefer, Asena Pinar; Guner, Sukrue Nail; Keles, Sevgi; Reisli, Ismail; Musabak, Ugur; Demirbas, Nazli Deveci; Haskologlu, Sule; Kilic, Sara Sebnem; Metin, Ayse; Dogu, Figen; Ikinciogullari, Aydan; Tezcan, Ilhan
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收藏GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway (vol 25, pg 282, 2024)GIMAP5缺陷揭示了哺乳动物神经酰胺驱动的长寿保证途径 (第25卷,282页,2024页)
Park, Ann Y.; Leney-Greene, Michael; Lynberg, Matthew; Gabrielski, Justin Q.; Xu, Xijin; Schwarz, Benjamin; Zheng, Lixin; Balasubramaniyam, Arasu; Ham, Hyoungjun; Chao, Brittany; Zhang, Yu; Matthews, Helen F.; Cui, Jing; Yao, Yikun; Kubo, Satoshi; Chanchu, Jean Michel; Morawski, Aaron R.; Cook, Sarah A.; Jiang, Ping; Ravell, Juan C.; Cheng, Yan H.; George, Alex; Faruqi, Aiman; Pagalilauan, Alison M.; Bergerson, Jenna R. E.; Ganesan, Sundar; Chauvin, Samuel D.; Aluri, Jahnavi; Edwards-Hicks, Joy; Bohrnsen, Eric; Tippett, Caroline; Omar, Habib; Xu, Leilei; Butcher, Geoffrey W.; Pascall, John; Karakoc-Aydiner, Elif; Kiykim, Ayca; Maecker, Holden; Tezcan, Ilhan; Esenboga, Saliha; Heredia, Raul Jimenez; Akata, Deniz; Tekin, Saban; Kara, Altan; Kuloglu, Zarife; Unal, Emel; Kendirli, Tanil; Dogu, Figen; Karabiber, Esra; Atkinson, T. Prescott; Cochet, Claude; Filhol, Odile; Bosio, Catherine M.; Davis, Mark M.; Lifton, Richard P.; Pearce, Erika L.; Daumke, Oliver; Aytekin, Caner; Sahin, Gulseren Evirgen; Aksu, Aysel Unlusoy; Uzel, Gulbu; Rao, V. Koneti; Sari, Sinan; Dalgic, Buket; Boztug, Kaan; Cagdas, Deniz; Haskologlu, Sule; Ikinciogullari, Aydan; Schwefel, David; Vilarinho, Silvia; Baris, Safa; Ozen, Ahmet; Su, Helen C.; Lenardo, Michael J.
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收藏Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre
Karaatmaca, Betul; Cagdas, Deniz; Esenboga, Saliha; Erman, Baran; Tan, Cagman; Ozgur, Tuba Turul; Boztug, Kaan; van der Burg, Mirjam; Sanal, Ozden; Tezcan, Ilhan
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收藏GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathwayGIMAP5缺陷揭示了哺乳动物神经酰胺驱动的长寿保证途径
Park, Ann Y.; Leney-Greene, Michael; Lynberg, Matthew; Gabrielski, Justin Q.; Xu, Xijin; Schwarz, Benjamin; Zheng, Lixin; Balasubramaniyam, Arasu; Ham, Hyoungjun; Chao, Brittany; Zhang, Yu; Matthews, Helen F.; Cui, Jing; Yao, Yikun; Kubo, Satoshi; Chanchu, Jean Michel; Morawski, Aaron R.; Cook, Sarah A.; Jiang, Ping; Ravell, Juan C.; Cheng, Yan H.; George, Alex; Faruqi, Aiman; Pagalilauan, Alison M.; Bergerson, Jenna R. E.; Ganesan, Sundar; Chauvin, Samuel D.; Aluri, Jahnavi; Edwards-Hicks, Joy; Bohrnsen, Eric; Tippett, Caroline; Omar, Habib; Xu, Leilei; Butcher, Geoffrey W.; Pascall, John; Karakoc-Aydiner, Elif; Kiykim, Ayca; Maecker, Holden; Tezcan, Ilhan; Esenboga, Saliha; Heredia, Raul Jimenez; Akata, Deniz; Tekin, Saban; Kara, Altan; Kuloglu, Zarife; Unal, Emel; Kendirli, Tanil; Dogu, Figen; Karabiber, Esra; Atkinson, T. Prescott; Cochet, Claude; Filhol, Odile; Bosio, Catherine M.; Davis, Mark M.; Lifton, Richard P.; Pearce, Erika L.; Daumke, Oliver; Aytekin, Caner; Sahin, Guelseren Evirgen; Aksu, Aysel uenluesoy; Uzel, Gulbu; Koneti Rao, V.; Sari, Sinan; Boztug, Kaan; Cagdas, Deniz; Haskologlu, Sule; Ikinciogullari, Aydan; Schwefel, David; Vilarinho, Silvia; Baris, Safa; Ozen, Ahmet; Su, Helen C.; Lenardo, Michael J.
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收藏A large single-center cohort of bare lymphocyte syndrome: Immunological and genetic features in Turkey
Unsal, Hilal; Caka, Canan; Bildik, Hacer Neslihan; Esenboga, Saliha; Kupesiz, Alphan; Kuskonmaz, Baris; Cetinkaya, Duygu Uckan; van Der Burg, Mirjam; Tezcan, Ilhan; Cagdas, Deniz
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