Browsing by Author "Karakoc-Aydiner, Elif"
Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia Kiykim, Ayca; YEŞİL, GÖZDE; Ozen, Ahmet; Karakoc-Aydiner, Elif; Garncarz, Wojciech; BARIŞ, SAFA; Boztug, Kaan; Kiykim, Ertugrul (2016-04-01)
Parents of ataxia-telangiectasia patients display a distinct cellular immune phenotype mimickingATM-mutated patients ÖĞÜLÜR, İSMAİL; BARIŞ, SAFA; KOCAMIŞ, BURCU; Ertuzun, Tugce; MÜFTÜOĞLU, Meltem; Karakoc-Aydiner, Elif; Ozen, Ahmet; Somer, Ayper; Akturk, Hacer; YEŞİL, Gözde; Baser, Dilek; KIYKIM, Ayça; Uyar, Emel; Kendir Demirkol, Yasemin (2020-10-01)Background Heterozygous relatives of ataxia-telangiectasia (AT) patients are at an increased risk for certain AT-related manifestations. We also show that there is an increase of infection frequency in parents of AT patients. ...