Browsing by Author "Aydiner, Elif"
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Mutational landscape of severe combined immunodeficiency patients from Turkey
Firtina, Sinem; Ng, Yuk Yin; Ng, Ozden Hatirnaz; Kiykim, Ayca; Aydiner, Elif; Nepesov, Serdar; Camcioglu, Yildiz; Sayar, Esra H.; Reisli, Ismail; Torun, Selda H.; Cogurlu, Tuba; Uygun, Dilara; Simsek, Isil E.; Kaya, Aysenur; Erol Cipe, Funda; Cagdas, Deniz; Yucel, Esra; Cekic, Sukru; Uygun, Vedat; Baris, Safa; Ozen, Ahmet; Ozbek, Ugur; Sayitoglu, Muge (Wiley, 2020)Severe combined immunodeficiency (SCID) has a diverse genetic aetiology, where a clinical phenotype, caused by single and/or multiple gene variants, can give rise to multiple presentations. The advent of next-generation ... -
A novel foxn1 variant is identified in two siblings with nude severe combined immunodeficiency
Firtina, Sinem; Erol Cipe, Funda; Ng, Yuk Yin; Kiykim, Ayca; Ng, Ozden Hatirnaz; Sudutan, Tugce; Aydogmus, Cigdem; Baris, Safa; Ozturk, Gulyuz; Aydiner, Elif; Ozen, Ahmet; Sayitoglu, Muge (Springer/Plenum Publishers, 2019)Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiencies (PIDs) caused by gene variants that lead to a failure of functional T cell development, with or without accompanying defects ...