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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
2922015
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
212017
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
172019
Evaluation of plasma microRNA expressions in patients with juvenile idiopathic arthritis
F Demir, AH Çebi, M Kalyoncu
Clinical Rheumatology 37, 3255-3262, 2018
152018
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
112022
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, 2017
112017
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
102020
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
92018
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
72016
Assessment of circulating microribonucleic acids in patients with familial Mediterranean fever
F Demir, AH Cebi, M Kalyoncu
Archives of Rheumatology 35 (1), 52, 2020
62020
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
52021
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
42022
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
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
32022
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
32020
Extending the Phenotypic Spectrum of Huntington Disease: Hypothermia
Ş Altıner, S Ardic, AH Çebi
Molecular Syndromology 11 (1), 56-58, 2020
32020
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
22022
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
22021
Plasma microRNA levels in childhood IgA vasculitis
AH Cebi, F Demir, M Ikbal, M Kalyoncu
Clinical Rheumatology 40, 1975-1981, 2021
22021
Genetic analysis of BCR-ABL negative chronic myeloproliferative diseases at initial diagnosis and their clinical effects
A Uysal, Ş ALTINER, S Çelik, S Uysal, AH Çebi
Cukurova Medical Journal 45 (3), 933-939, 2020
22020
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