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Alper  Han ÇEBİ
Alper Han ÇEBİ
Unknown affiliation
Verified email at ktu.edu.tr
Title
Cited by
Cited by
Year
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
3282015
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
272017
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
212019
Evaluation of plasma microRNA expressions in patients with juvenile idiopathic arthritis
F Demir, AH Çebi, M Kalyoncu
Clinical Rheumatology 37, 3255-3262, 2018
192018
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
152022
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
132017
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
112021
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
112020
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
102018
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
92016
Assessment of circulating microribonucleic acids in patients with familial Mediterranean fever
F Demir, AH Cebi, M Kalyoncu
Archives of Rheumatology 35 (1), 52, 2019
82019
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
72022
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
52020
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
42024
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
42022
Extending the phenotypic spectrum of Huntington disease: hypothermia
Ş Altıner, S Ardic, AH Çebi
Molecular Syndromology 11 (1), 56-58, 2020
42020
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
32022
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
32022
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
32021
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
22024
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