| Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium M Dundar, U Fahrioglu, SH Yildiz, B Bakir-Gungor, SG Temel, H Akin, ... Functional & integrative genomics 22 (3), 291-315, 2022 | 16 | 2022 |
| A case of familial recurrent 17q12 microdeletion syndrome presenting with severe diabetic ketoacidosis C Aydın, E Kıral, E Susam, AK Tufan, C Yarar, N Çetin, S Kocagil, B Kırel The Turkish Journal of Pediatrics 64 (3), 558-565, 2022 | 4 | 2022 |
| Interstitial 3p25. 3 deletion syndrome: 13 years’-long follow-up of an affected individual S Kocagil, E Susam, S Yimenicioğlu, S Aynaci, EE Gökalp, S Artan Clinical Dysmorphology, 10.1097, 2024 | | 2024 |
| Uncovering the Dual Role of Mitochondrial and Nuclear DNA Variants in Pediatric Cardiomyopathies MA Temena, E Erzurumluoglu Gokalp, E Susam, D Cinar, H Kiztanir, ... medRxiv, 2023.12. 20.23300082, 2023 | | 2023 |
| Brittle cornea syndrome with a novel pathogenic variant of PRDM5 gene E Susam, N Yildirim, S Kocagil, O Cilingir EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 119-120, 2022 | | 2022 |
| A novel mutation of DYSF gene in a patient with Limb Girdle Muscular Dystrophy type 2b S Kocagil, E Kaplan, E Susam, BD Aras, S Artan, EE Gokalp, O Cilingir EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 898-898, 2020 | | 2020 |
| Macroorchidism as a unique sign in 3q13. 31 Deletion syndrome E Susam, O Cilingir, BD Aras, E Erzurumluo-Glu, S Kocagil, S Artan, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1843-1843, 2019 | | 2019 |
| A patient with a balanced inversion of chromosome 11 and unbalanced inversion of chromosome 2. E Susam, O Cilingir, H Bas, BD Aras, EE Gokalp, S Artan Erciyes Medical Journal 41 (S1), 20-21, 2019 | | 2019 |
| EXPANDING THE PHENOTYPIC SPECTRUM OF INTELLECTUAL DEVELOPMENTAL DISORDER-70 S Kocagil, ALİ Keklikci, S Aynacı, E Susam | | |
