Artemis deficiency: A large cohort including a novel variant with increased radiosensitivity
Meric, Zeynep, Gemici Karaaslan, Betul, Yalcin Gungoren, Ezgi, Bektas Hortoglu, Melika, Cavas, Tolga, Aydemir, Sezin, Bilgic Eltan, Sevgi, Firtina, Sinem, Kendir Demirkol, Yasemin, Eser, Metin, Cekic, Sukru, Kilic, Suar, Karasu, Gulsun, Yesilipek, Mehmet Akif, Eke Gungor, Hatice, Karakoc‐Aydiner, Elif, Ozen, Ahmet, Baris, Safa, Yucel, Esra, Cokugras, Haluk, Kiykim, Ayca
Published in Pediatric allergy and immunology (01.06.2024)
Published in Pediatric allergy and immunology (01.06.2024)
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Journal Article
Immune Reconstitution Inflammatory Syndrome After Hematopoietic Stem Cell Transplantation in a FOXN1 -deficient Patient
Corbali, Osman, Gemici Karaaslan, Hatice Betul, Aydemir, Sezin, Onal, Pinar, Kendir Demirkol, Yasemin, Nepesov, Serdar, Kiykim, Ayca, Cokugras, Haluk
Published in Journal of pediatric hematology/oncology (01.07.2023)
Published in Journal of pediatric hematology/oncology (01.07.2023)
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Journal Article
Lack of NAD(P)+ transhydrogenase activity in patients with primary adrenal insufficiency due to NNT variants
Francisco, Annelise, Goler, Ayse Mine Yilmaz, Navarro, Claudia Daniele Carvalho, Onder, Asan, Yildiz, Melek, Kendir Demirkol, Yasemin, Karademir Yilmaz, Betul, Seven Menevse, Tuba, Güran, Tülay, Castilho, Roger Frigério
Published in European journal of endocrinology (01.02.2024)
Published in European journal of endocrinology (01.02.2024)
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Journal Article
Evolution and long‐term outcomes of combined immunodeficiency due to CARMIL2 deficiency
Kolukisa, Burcu, Baser, Dilek, Akcam, Bengu, Danielson, Jeffrey, Bilgic Eltan, Sevgi, Haliloglu, Yesim, Sefer, Asena Pinar, Babayeva, Royale, Akgun, Gamze, Charbonnier, Louis‐Marie, Schmitz‐Abe, Klaus, Kendir Demirkol, Yasemin, Zhang, Yu, Gonzaga‐Jauregui, Claudia, Jimenez Heredia, Raul, Kasap, Nurhan, Kiykim, Ayca, Ozek Yucel, Esra, Gok, Veysel, Unal, Ekrem, Pac Kisaarslan, Aysenur, Nepesov, Serdar, Baysoy, Gokhan, Onal, Zerrin, Yesil, Gozde, Celkan, Tulin Tiraje, Cokugras, Haluk, Camcioglu, Yildiz, Eken, Ahmet, Boztug, Kaan, Lo, Bernice, Karakoc‐Aydiner, Elif, Su, Helen C., Ozen, Ahmet, Chatila, Talal A., Baris, Safa
Published in Allergy (Copenhagen) (01.03.2022)
Published in Allergy (Copenhagen) (01.03.2022)
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Journal Article
COVID-19 PCR test performance on samples stored at ambient temperature
Agaoglu, Nihat Bugra, Yildiz, Jale, Akgun Dogan, Ozlem, Kose, Betsi, Alkurt, Gizem, Kendir Demirkol, Yasemin, Irvem, Arzu, Doganay, Levent, Dinler Doganay, Gizem
Published in Journal of virological methods (01.03.2022)
Published in Journal of virological methods (01.03.2022)
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Journal Article
Therapeutic modalities and clinical outcomes in a large cohort with LRBA deficiency and CTLA4 insufficiency
Taghizade, Nigar, Babayeva, Royala, Kara, Altan, Karakus, Ibrahim Serhat, Catak, Mehmet Cihangir, Bulutoglu, Alper, Haskologlu, Zehra Sule, Akay Haci, Idil, Tunakan Dalgic, Ceyda, Karabiber, Esra, Bilgic Eltan, Sevgi, Yorgun Altunbas, Melek, Sefer, Asena Pinar, Sezer, Ahmet, Kokcu Karadag, Sefika Ilknur, Arik, Elif, Karali, Zuhal, Ozhan Kont, Aylin, Tuzer, Can, Karaman, Sait, Mersin, Selver Seda, Kasap, Nurhan, Celik, Enes, Kocacik Uygun, Dilara Fatma, Aydemir, Sezin, Kiykim, Ayca, Aydogmus, Cigdem, Ozek Yucel, Esra, Celmeli, Fatih, Karatay, Emrah, Bozkurtlar, Emine, Demir, Semra, Metin, Ayse, Karaca, Neslihan Edeer, Kutukculer, Necil, Aksu, Guzide, Guner, Sukru Nail, Keles, Sevgi, Reisli, Ismail, Kendir Demirkol, Yasemin, Arikoglu, Tugba, Gulez, Nesrin, Genel, Ferah, Kilic, Sara Sebnem, Aytekin, Caner, Keskin, Ozlem, Yildiran, Alisan, Ozcan, Dilek, Altintas, Derya Ufuk, Ardeniz, Fatma Omur, Dogu, Esin Figen, Ikinciogullari, Kamile Aydan, Karakoc-Aydiner, Elif, Ozen, Ahmet, Baris, Safa
Published in Journal of allergy and clinical immunology (01.12.2023)
Published in Journal of allergy and clinical immunology (01.12.2023)
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Journal Article
Steroid Hormone Profiles and Molecular Diagnostic Tools in Pediatric Patients With non-CAH Primary Adrenal Insufficiency
Seven Menevse, Tuba, Kendir Demirkol, Yasemin, Gurpinar Tosun, Busra, Bayramoglu, Elvan, Yildiz, Melek, Acar, Sezer, Erisen Karaca, Seda, Orbak, Zerrin, Onder, Asan, Sobu, Elif, Anık, Ahmet, Atay, Zeynep, Bugrul, Fuat, Derya Bulus, Ayse, Demir, Korcan, Dogan, Durmus, Cihan Emeksiz, Hamdi, Kirmizibekmez, Heves, Ozcan Murat, Nurhan, Yaman, Akan, Turan, Serap, Bereket, Abdullah, Guran, Tulay
Published in The journal of clinical endocrinology and metabolism (19.04.2022)
Published in The journal of clinical endocrinology and metabolism (19.04.2022)
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Journal Article
Familial early-onset obesity in Turkish children: variants and polymorphisms in the melanocortin-4 receptor (MC4R) gene
Kırmızıbekmez, Heves, Kendir Demirkol, Yasemin, Akgün Doğan, Özlem, Seymen, Gülcan, İnan Balcı, Elif, Atla, Pınar, Dursun, Fatma
Published in Journal of Pediatric Endocrinology & Metabolism (25.05.2022)
Published in Journal of Pediatric Endocrinology & Metabolism (25.05.2022)
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Journal Article
Catch-up Growth and Discontinuation of Fludrocortisone Treatment in Aldosterone Synthase Deficiency
Gurpinar Tosun, Busra, Kendir Demirkol, Yasemin, Seven Menevse, Tuba, Kaygusuz, Sare Betul, Ozbek, Mehmet Nuri, Altincik, Selda Ayca, Mammadova, Jamala, Cayir, Atilla, Doger, Esra, Bayramoglu, Elvan, Nalbantoglu, Ozlem, Yesiltepe Mutlu, Gul, Aghayev, AghaRza, Turan, Serap, Bereket, Abdullah, Guran, Tulay
Published in The journal of clinical endocrinology and metabolism (01.01.2022)
Published in The journal of clinical endocrinology and metabolism (01.01.2022)
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Journal Article
Johanson–Blizzard's Syndrome with a Novel UBR1 Mutation
Demir, Damla, Kendir Demirkol, Yasemin, Gerenli, Nelgin, Aktaş Karabay, Ezgi
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.06.2022)
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.06.2022)
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Journal Article
Comparing the levels of CTLA‐4‐dependent biological defects in patients with LRBA deficiency and CTLA‐4 insufficiency
Catak, Mehmet C., Akcam, Bengu, Bilgic Eltan, Sevgi, Babayeva, Royala, Karakus, Ibrahim S., Akgun, Gamze, Baser, Dilek, Bulutoglu, Alper, Bayram, Feyza, Kasap, Nurhan, Kiykim, Ayca, Hancioglu, Gonca, Kokcu Karadag, Sefika I., kendir Demirkol, Yasemin, Ozen, Selime, Cekic, Sukru, Ozcan, Dilek, Edeer Karaca, Neslihan, Sasihuseyinoglu, Ayse S., Cansever, Murat, Ozek Yucel, Esra, Tamay, Zeynep, Altintas, Derya U., Aydogmus, Cigdem, Celmeli, Fatih, Cokugras, Haluk, Gulez, Nesrin, Genel, Ferah, Metin, Ayse, Guner, Sukru N., Kutukculer, Necil, Keles, Sevgi, Reisli, Ismail, Kilic, Sara S., Yildiran, Alisan, Karakoc‐Aydiner, Elif, Lo, Bernice, Ozen, Ahmet, Baris, Safa
Published in Allergy (Copenhagen) (01.10.2022)
Published in Allergy (Copenhagen) (01.10.2022)
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Journal Article
A boy with a novel homozygous ZAP70 mutation presenting with a dermatological phenotype and postnatal decrease in CD8+ T cells
Babayeva, Royala, Mongellaz, Cedric, Karakus, Ibrahim Serhat, Cansever, Murat, Bilgic Eltan, Sevgi, Catak, Mehmet Cihangir, Bulutoglu, Alper, Kendir Demirkol, Yasemin, Eser, Metin, Karakoc‐Aydiner, Elif, Ozen, Ahmet, Zimmermann, Valérie S., Taylor, Naomi, Baris, Safa, Candotti, Fabio
Published in Pediatric allergy and immunology (01.03.2022)
Published in Pediatric allergy and immunology (01.03.2022)
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Journal Article
Expanding the Clinical and Immunological Phenotypes and Natural History of MALT1 Deficiency
Sefer, Asena Pinar, Abolhassani, Hassan, Ober, Franziska, Kayaoglu, Basak, Bilgic Eltan, Sevgi, Kara, Altan, Erman, Baran, Surucu Yilmaz, Naz, Aydogmus, Cigdem, Aydemir, Sezin, Charbonnier, Louis-Marie, Kolukisa, Burcu, Azizi, Gholamreza, Delavari, Samaneh, Momen, Tooba, Aliyeva, Simuzar, Kendir Demirkol, Yasemin, Tekin, Saban, Kiykim, Ayca, Baser, Omer Faruk, Cokugras, Haluk, Gursel, Mayda, Karakoc-Aydiner, Elif, Ozen, Ahmet, Krappmann, Daniel, Chatila, Talal A., Rezaei, Nima, Baris, Safa
Published in Journal of clinical immunology (01.04.2022)
Published in Journal of clinical immunology (01.04.2022)
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Journal Article
Inflammatory Bowel Disease and Guillain Barre Syndrome in FCHO1 Deficiency
Aydemir, Sezin, Islek, Ali, Nepesov, Serdar, Yaman, Yontem, Baysoy, Gokhan, Beser, Omer Faruk, Cokugras, Fugen Cullu, Baris, Safa, Karakoc-Aydiner, Elif, Cokugras, Haluk, Hubrack, Satanay Z., Kendir Demirkol, Yasemin, Lo, Bernice, Kiykim, Ayca, Ozen, Ahmet
Published in Journal of clinical immunology (01.08.2021)
Published in Journal of clinical immunology (01.08.2021)
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Journal Article
Parents of ataxia‐telangiectasia patients display a distinct cellular immune phenotype mimicking ATM‐mutated patients
Ogulur, Ismail, Ertuzun, Tugce, Kocamis, Burcu, Kendir Demirkol, Yasemin, Uyar, Emel, Kiykim, Ayca, Baser, Dilek, Yesil, Gozde, Akturk, Hacer, Somer, Ayper, Ozen, Ahmet, Karakoc‐Aydiner, Elif, Muftuoglu, Meltem, Baris, Safa, Atanaskovic‐Markovic, Marina
Published in Pediatric allergy and immunology (01.02.2021)
Published in Pediatric allergy and immunology (01.02.2021)
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Journal Article
The origin of SARS-CoV-2 in Istanbul: Sequencing findings from the epicenter of the pandemic in Turkey
Karacan, Ilker, Akgun, Tugba Kizilboga, Agaoglu, N Bugra, Irvem, Arzu, Alkurt, Gizem, Yildiz, Jale, Kose, Betsi, Ozel, A Serra, Altunal, L Nilsun, Can, Nisan Denizce, Demirkol, Yasemin Kendir, Aydin, Mehtap, Dogan, Ozlem Akgun, Doganay, Levent, Doganay, Gizem Dinler
Published in Northern Clinics of Istanbul (01.01.2020)
Published in Northern Clinics of Istanbul (01.01.2020)
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Journal Article
First Co-Occurrence of Griscelli Syndrome Type 2 and Neurofibromatosis Type 1
Kendir-Demirkol, Yasemin, Yeter, Burcu, Yararbaş, Kanay
Published in Molecular syndromology (01.06.2024)
Published in Molecular syndromology (01.06.2024)
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Journal Article