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Page 1
Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).
Bellos E, Santillo D, Vantourout P, Jackson HR, Duret A, Hearn H, Seeleuthner Y, Talouarn E, Hodeib S, Patel H, Powell O, Yeoh S, Mustafa S, Habgood-Coote D, Nichols S, Estramiana Elorrieta L, D'Souza G, Wright VJ, Estrada-Rivadeneyra D, Tremoulet AH, Dummer KB, Netea SA, Condino-Neto A, Lau YL, Núñez Cuadros E, Toubiana J, Holanda Pena M, Rieux-Laucat F, Luyt CE, Haerynck F, Mège JL, Chakravorty S, Haddad E, Morin MP, Metin Akcan Ö, Keles S, Emiroglu M, Alkan G, Tüter Öz SK, Elmas Bozdemir S, Morelle G, Volokha A, Kendir-Demirkol Y, Sözeri B, Coskuner T, Yahsi A, Gulhan B, Kanik-Yuksek S, Bayhan GI, Ozkaya-Parlakay A, Yesilbas O, Hatipoglu N, Ozcelik T, Belot A, Chopin E, Barlogis V, Sevketoglu E, Menentoglu E, Gayretli Aydin ZG, Bloomfield M, AlKhater SA, Cyrus C, Stepanovskiy Y, Bondarenko A, Öz FN, Polat M, Fremuth J, Lebl J, Geraldo A, Jouanguy E; COVID-19 Human Genetic Effort; DIAMONDS; EUCLIDS; Carter MJ, Wellman P, Peters M, Pérez de Diego R, Edwards LA, Chiu C, Noursadeghi M, Bolze A, Shimizu C, Kaforou M, Hamilton MS, Herberg JA, Schmitt EG, Rodriguez-Palmero A, Pujol A, Kim J, Cobat A, Abel L, Zhang SY, Casanova JL, Kuijpers TW, Burns JC, Levin M, Hayday AC, Sanc… See abstract for full author list ➔ Bellos E, et al. Among authors: kendir demirkol y. J Exp Med. 2024 Dec 2;221(12):e920240699. doi: 10.1084/jem.20240699. Epub 2024 Nov 22. J Exp Med. 2024. PMID: 39576310
Artemis deficiency: A large cohort including a novel variant with increased radiosensitivity.
Meric Z, Gemici Karaaslan B, Yalcin Gungoren E, Bektas Hortoglu M, Cavas T, Aydemir S, Bilgic Eltan S, Firtina S, Kendir Demirkol Y, Eser M, Cekic S, Kilic S, Karasu G, Yesilipek MA, Eke Gungor H, Karakoc-Aydiner E, Ozen A, Baris S, Yucel E, Cokugras H, Kiykim A. Meric Z, et al. Among authors: kendir demirkol y. Pediatr Allergy Immunol. 2024 Jun;35(6):e14171. doi: 10.1111/pai.14171. Pediatr Allergy Immunol. 2024. PMID: 38860449
Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency.
Rosain J, Kiykim A, Michev A, Kendir-Demirkol Y, Rinchai D, Peel JN, Li H, Ocak S, Ozdemir PG, Le Voyer T, Philippot Q, Khan T, Neehus AL, Migaud M, Soudée C, Boisson-Dupuis S, Marr N, Borghesi A, Casanova JL, Bustamante J. Rosain J, et al. Among authors: kendir demirkol y. J Clin Immunol. 2024 Feb 16;44(3):62. doi: 10.1007/s10875-024-01661-5. J Clin Immunol. 2024. PMID: 38363432 Free PMC article.
Evaluation of Clinical and Immunological Alterations Associated with ICF Syndrome.
Bilgic Eltan S, Nain E, Catak MC, Ezen E, Sefer AP, Karimi N, Kiykim A, Kolukisa B, Baser D, Bulutoglu A, Kasap N, Yorgun Altunbas M, Yalcin Gungoren E, Kendir Demirkol Y, Kutlug S, Hancioglu G, Dilek F, Yildiran A, Ozen A, Karakoc-Aydiner E, Erman B, Baris S. Bilgic Eltan S, et al. Among authors: kendir demirkol y. J Clin Immunol. 2023 Dec 22;44(1):26. doi: 10.1007/s10875-023-01620-6. J Clin Immunol. 2023. PMID: 38129713
32 results