| Chanarin-Dorfman syndrome S Kalyon, Y Gökden, N Demirel, B Erden, A Türkyılmaz The Turkish Journal Of Gastroenterology 30 (1), 105, 2018 | 20 | 2018 |
| Genotypic sex and severity of the disease determine the time of clinical presentation in steroid 17α-hydroxylase/17, 20-lyase deficiency E Kurnaz, E Kartal Baykan, A Türkyılmaz, O Yaralı, Z Yavaş Abalı, S Turan, ... Hormone research in paediatrics 93 (9-10), 558-566, 2021 | 17 | 2021 |
| Secondary findings in 622 Turkish clinical exome sequencing data E Arslan Ateş, A Türkyilmaz, Ö Yıldırım, C Alavanda, H Polat, Ş Demir, ... Journal of Human Genetics 66 (11), 1113-1119, 2021 | 10 | 2021 |
| Differential diagnosis of acromegaly: pachydermoperiostosis two new cases from Turkey EK Baykan, A Türkyılmaz Journal of Clinical Research in Pediatric Endocrinology 14 (3), 350, 2022 | 9 | 2022 |
| Multigene Panel Testing in Turkish Hereditary Cancer Syndrome Patients. E Arslan Ates, A Turkyilmaz, C Alavanda, O Yildirim, AI Guney Medeniyet Medical Journal 37 (2), 2022 | 9 | 2022 |
| Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients N Yakici, AY Kreins, MC Catak, R Babayeva, B Erman, H Kenney, ... Clinical Immunology 255, 109757, 2023 | 8 | 2023 |
| Array-based comparative genomic hybridization analysis in children with developmental delay/intellectual disability A Türkyılmaz, BB Geckinli, E Tekin, EA Ates, O Yarali, AH Cebi, A Arman Balkan Journal of Medical Genetics 24 (2), 15-24, 2022 | 7 | 2022 |
| Meckel-Gruber syndrome: clinical and molecular genetic profiles in two fetuses and review of the current literature A Turkyilmaz, BB Geckinli, C Alavanda, E Arslan Ates, EE Buyukbayrak, ... Genetic testing and molecular biomarkers 25 (6), 445-451, 2021 | 7 | 2021 |
| Low DHEAS concentration in a girl presenting with short stature and premature pubarche: a novel PAPSS2 gene mutation M Eltan, Z Yavas Abali, E Arslan Ates, T Kirkgoz, SB Kaygusuz, ... Hormone Research in Paediatrics 92 (4), 262-268, 2020 | 7 | 2020 |
| A novel truncating mutation of DOCK7 gene with an early-onset non-encephalopathic epilepsy D Turkdogan, A Turkyilmaz, Z Gormez, G Sager, G Ekinci Seizure-European Journal of Epilepsy 66, 12-14, 2019 | 7 | 2019 |
| Two new cases of primary microcephaly with neuronal migration defect caused by truncating mutations in the ASPM gene A Türkyılmaz, SG Sager Molecular Syndromology 13 (1), 56-63, 2022 | 6 | 2022 |
| A novel DCAF17 homozygous mutation in a girl with Woodhouse-Sakati syndrome and review of the current literature E Kurnaz, A Türkyılmaz, O Yaralı, B Demir, A Çayır Journal of Pediatric Endocrinology and Metabolism 32 (11), 1287-1293, 2019 | 6 | 2019 |
| The expression levels of microRNAs associated with T and B cell differentiation/stimulation in Ankylosing Spondylitis A Türkyilmaz, P Ata, F Akbaş, İ Yağci Balkan Journal of Medical Genetics 23 (1), 25-32, 2020 | 5 | 2020 |
| Evaluation of optical coherence tomography findings and visual evoked potentials in Charcot–Marie–Tooth disease AT Kaplan, S Oskan Yalcin, SG Sager, A Türkyılmaz, R İnan International Ophthalmology 43 (1), 333-341, 2023 | 4 | 2023 |
| Genetic Landscape of SCN1A Variants in a Turkish Cohort with GEFS+ Spectrum and Dravet Syndrome A Türkyılmaz, E Tekin, O Yaralı, AH Çebi Molecular Syndromology 13 (4), 270-281, 2022 | 4 | 2022 |
| Frequency of Familial Mediterranean Fever Gene Mutation in Patients Presenting With Joint Pain and Diagnosed With Acute Rheumatic Fever UU Gullu, İ Balaban, SS Kara, O Yaralı, A Türkyılmaz, S İpek, ŞD Güllü, ... Cureus 15 (8), 2023 | 3 | 2023 |
| Autosomal recessive primary microcephaly (MCPH) and novel pathogenic variants in ASPM and WDR62 genes H Bolat, SG Sağer, A Türkyılmaz, AH Çebi, Y Akın, H Onay, F Özkınay, ... Molecular Syndromology 13 (5), 363-369, 2022 | 3 | 2022 |
| Novel SH3PXD2B variant identified by whole-exome sequencing in a Turkish newborn with Frank–Ter Haar Syndrome A Türkyilmaz, SG Sager, B Topcu, AT Kaplan, HP Günbey, Y Akin Clinical Dysmorphology 31 (1), 45-49, 2022 | 3 | 2022 |
| A very rare partial trisomy syndrome: duplication of 16q12. 1q23. 3 in a Turkish girl with developmental delay and facial dysmorphic features A Türkyılmaz, O Yaralı Balkan Journal of Medical Genetics 23 (1), 103-108, 2020 | 3 | 2020 |
| The first Turkish family with a novel biallelic missense variant of the ALKBH8 gene: A study on the clinical and variant spectrum of ALKBH8‐related intellectual … M Yılmaz, T Kamaşak, K Teralı, AH Çebi, A Türkyılmaz American Journal of Medical Genetics Part A 194 (5), e63535, 2024 | 2 | 2024 |
