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Corrigendum to “Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients” [Clinical Immunology 255 (2023) 109757]
Yakıcı, Nalan; Kreins, Alexandra Y.; Çatak, Mehmet Cihangir; Babayeva, Royala; Erman, Baran; Kenney, Heather; Güngör, Hatice Eke; Cea, Pablo A; Kawai, Tomoki; Bosticardo, Marita; Delmonte, Ottavia Maria; Adams, Stuart; Fan, Yu-Ton; Pala, Francesca; Türkyılmaz, Ayberk; Howley, Evey; Worth, Austen; Kot, Hakan; Sefer, Asena Pınar; Kara, Altan; Bulutoğlu, Alper; Bilgiç-Eltan, Sevgi; Altunbaş, Melek Yorgun; Bayram Çatak, Feyza; Karakuş, Ibrahim Serhat; Karatay, Emrah; Tekeoğlu, Sidem Didar; Eser, Metin; Albayrak, Davut; Çitli, Şenol; Kıykım, Ayça; Karakoç-Aydıner, Elif; Özen, Ahmet; Ghosh, Sujal; Gohlke, Holger; Orhan, Fazıl; Notarangelo, Luigi D.; Davies, E. Graham; Barış, Safa (Elsevier, 2023)..... -
Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients
Yakıcı, Nalan; Kreins, Alexandra Y.; Çatak, Mehmet Cihangir; Babayeva, Royala; Erman, Baran; Kenney, Heather; Güngör, Hatice Eke; Cea, Pablo A.; Kawai, Tomoki; Bosticardo, Marita; Delmonte, Ottavia Maria; Adams, Stuart; Fan, Yu-Ton; Pala, Francesca; Türkyılmaz, Ayberk; Howley, Evey; Worth, Austen; Kot, Hakan; Sefer, Asena Pınar; Kara, Altan; Bulutoğlu, Alper; Bilgiç-Eltan, Sevgi; Altunbaş, Melek Yorgun; Bayram Çatak, Feyza; Karakuş, Ibrahim Serhat; Karatay, Emrah; Tekeoğlu, Sidem Didar; Eser, Metin; Albayrak, Davut; Çitli, Şenol; Kıykım, Ayça; Karakoç-Aydıner, Elif; Özen, Ahmet; Ghosh, Sujal; Gohlke, Holger; Orhan, Fazıl; Notarangelo, Luigi D.; Davies, E. Graham; Barış, Safa (Elsevier, 2023)Paired box 1 (PAX1) deficiency has been reported in a small number of patients diagnosed with otofaciocervical syndrome type 2 (OFCS2). We described six new patients who demonstrated variable clinical penetrance. Reduced ... -
Hypohidrotic ectodermal dysplasias: phenotypic and genotypic findings in 32 cases
Esener, Zeynep; Yücesoy, Mehmet Akif; Gezdirici, Alper; Doğan, Mustafa; Türkyılmaz, Ayberk; Tekedereli, İbrahim; Baş, Hasan; Tekmenuray-Ünal, Aysel; Kocagil, Sinem; Çitli, Şenol; Öztürk, Murat; Ceylan, Emine İpek; Karaman, Volkan; Aslanger, Ayça Dilruba (Wiley, 2025)Hypohidrotic ectodermal dysplasias are a genetic condition affecting ectoderm-derived structures such as hair, teeth, nails, and sweat glands, resulting from variations in the EDA, EDAR, EDARADD, and WNT10A genes. This ...
