Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease E Karaca, T Harel, D Pehlivan, SN Jhangiani, T Gambin, ZC Akdemir, ... Neuron 88 (3), 499-513, 2015 | 328 | 2015 |
Interleukin-6 and interleukin-17 gene polymorphism association with celiac disease in children U Akbulut, A ÇEBİ, E Sag, M İkbal, M Cakir Turkish Journal of Gastroenterology 28 (6), 2017 | 27 | 2017 |
IL‐17A, MCP‐1, CCR‐2, and ABCA1 polymorphisms in children with non‐alcoholic fatty liver disease UE Akbulut, HC Emeksiz, S Citli, AH Cebi, HAA Korkmaz, G Baki Jornal de Pediatria (Versão em Português) 95 (3), 350-357, 2019 | 21 | 2019 |
Evaluation of plasma microRNA expressions in patients with juvenile idiopathic arthritis F Demir, AH Çebi, M Kalyoncu Clinical Rheumatology 37, 3255-3262, 2018 | 19 | 2018 |
Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency A Turkyilmaz, C Alavanda, EA Ates, BB Geckinli, H Polat, M Gokcu, ... Journal of Assisted Reproduction and Genetics 39 (3), 695-710, 2022 | 15 | 2022 |
A rare cause of recurrent acute pancreatitis in a child: Isovaleric acidemia with novel mutation E Sag, AH Cebi, G Kaya, G Karaguzel, M Cakir Pediatric Gastroenterology, Hepatology & Nutrition 20 (1), 61-64, 2017 | 13 | 2017 |
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 | 11 | 2021 |
Structural characteristics in the γ chain variants associated with fibrinogen storage disease suggest the underlying pathogenic mechanism G Burcu, E Bellacchio, E Sag, AH Cebi, I Saygin, A Bahadir, G Yilmaz, ... International Journal of Molecular Sciences 21 (14), 5139, 2020 | 11 | 2020 |
Are diagnostic magnetic resonance patterns life-saving in children with biotin-thiamine-responsive basal ganglia disease? T Kamaşak, C Havalı, H İnce, İ Eyüboğlu, AH Çebi, S Sahin, A Cansu, ... european journal of paediatric neurology 22 (6), 1139-1149, 2018 | 10 | 2018 |
225 MB deletion OF 13q31. 1–q34 associated with HPE, DWM, and HSCR: a case report and redefining the smallest deleted regions MY Alp, AH Çebi, S Seyhan, A Cansu, H Aydin, M Ikbal Genet Couns 27 (1), 43-49, 2016 | 9 | 2016 |
Assessment of circulating microribonucleic acids in patients with familial Mediterranean fever F Demir, AH Cebi, M Kalyoncu Archives of Rheumatology 35 (1), 52, 2019 | 8 | 2019 |
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 |
Application of chromosome microarray analysis in the investigation of developmental disabilities and congenital anomalies: single center experience and review of nrxn3 and … AH Çebi, Ş Altıner Molecular Syndromology 11 (4), 197-206, 2020 | 5 | 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 | 4 | 2024 |
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 |
Extending the phenotypic spectrum of Huntington disease: hypothermia Ş Altıner, S Ardic, AH Çebi Molecular Syndromology 11 (1), 56-58, 2020 | 4 | 2020 |
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 |
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome in two siblings: same mutation but different clinical manifestations at onset G Karagüzel, R Polat, MH Abul, AH Cebi, F Orhan Journal of Clinical Research in Pediatric Endocrinology 14 (3), 361, 2022 | 3 | 2022 |
Early onset congenital diarrheas; single center experience M Cakir, E Sag, B Guven, UE Akbulut, F Issi, AH Cebi, T Müller, D Aldrian, ... Pediatrics & Neonatology 62 (6), 612-619, 2021 | 3 | 2021 |
Prediction of molecular phenotypes for novel SCN1A variants from a Turkish genetic epilepsy syndromes cohort and report of two new patients with recessive Dravet syndrome K Teralı, A Türkyılmaz, SG Sağer, AH Çebi Clinical and Translational Science 17 (1), 2024 | 2 | 2024 |