Cebi AH - Search Results

1

Unveiling New Clinical and Genetic Insights in Ultra-Rare Intellectual Disability Phenotypes: A Study of a Turkish Cohort.

Turkyilmaz A, Sager SG, Terali K, Kart PO, Kamasak T, Ayaz A, Cebi AH, Cansu A. Turkyilmaz A, et al. Among authors: cebi ah. Clin Genet. 2024 Dec 11. doi: 10.1111/cge.14669. Online ahead of print. Clin Genet. 2024. PMID: 39659179

2

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.

Teralı K, Türkyılmaz A, Sağer SG, Çebi AH. Teralı K, et al. Among authors: cebi ah. Clin Transl Sci. 2024 Jan;17(1):e13679. doi: 10.1111/cts.13679. Epub 2023 Dec 6. Clin Transl Sci. 2024. PMID: 37955180 Free PMC article.

3

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 developmental disorders.

Yılmaz M, Kamaşak T, Teralı K, Çebi AH, Türkyılmaz A. Yılmaz M, et al. Among authors: cebi ah. Am J Med Genet A. 2024 May;194(5):e63535. doi: 10.1002/ajmg.a.63535. Epub 2024 Jan 8. Am J Med Genet A. 2024. PMID: 38189198

4

A Strong Candidate Gene for Nonsyndromic Intellectual Disability Phenotype: SGSM3.

Turkyilmaz A, Saglam KA, Yilmaz M, Cebi AH. Turkyilmaz A, et al. Among authors: cebi ah. Clin Genet. 2024 Oct 10. doi: 10.1111/cge.14631. Online ahead of print. Clin Genet. 2024. PMID: 39390489

5

Secondary findings in 622 Turkish clinical exome sequencing data.

Arslan Ateş E, Türkyilmaz A, Yıldırım Ö, Alavanda C, Polat H, Demir Ş, Çebi AH, Geçkinli BB, Güney Aİ, Ata P, Arman A. Arslan Ateş E, et al. Among authors: cebi ah. J Hum Genet. 2021 Nov;66(11):1113-1119. doi: 10.1038/s10038-021-00936-8. Epub 2021 May 28. J Hum Genet. 2021. PMID: 34050257

6

Genetic Landscape of SCN1A Variants in a Turkish Cohort with GEFS+ Spectrum and Dravet Syndrome.

Türkyılmaz A, Tekin E, Yaralı O, Çebi AH. Türkyılmaz A, et al. Among authors: cebi ah. Mol Syndromol. 2022 Jul;13(4):270-281. doi: 10.1159/000521330. Epub 2022 Feb 22. Mol Syndromol. 2022. PMID: 36158059 Free PMC article.

7

Array-Based Comparative Genomic Hybridization Analysis in Children with Developmental Delay/Intellectual Disability.

Türkyılmaz A, Geckinli BB, Tekin E, Ates EA, Yarali O, Cebi AH, Arman A. Türkyılmaz A, et al. Among authors: cebi ah. Balkan J Med Genet. 2022 Jun 5;24(2):15-24. doi: 10.2478/bjmg-2021-0020. eCollection 2021 Nov. Balkan J Med Genet. 2022. PMID: 36249514 Free PMC article.

8

Secondary findings in genes related to cancer phenotypes in Turkish exome sequencing data from 2020 individuals.

Demir O, Saglam KA, Yilmaz M, Apuhan T, Cebi AH, Turkyilmaz A. Demir O, et al. Among authors: cebi ah. Am J Med Genet A. 2024 Nov;194(11):e63806. doi: 10.1002/ajmg.a.63806. Epub 2024 Jun 28. Am J Med Genet A. 2024. PMID: 38940262

9

Are diagnostic magnetic resonance patterns life-saving in children with biotin-thiamine-responsive basal ganglia disease?

Kamaşak T, Havalı C, İnce H, Eyüboğlu İ, Çebi AH, Sahin S, Cansu A, Aydin K. Kamaşak T, et al. Among authors: cebi ah. Eur J Paediatr Neurol. 2018 Nov;22(6):1139-1149. doi: 10.1016/j.ejpn.2018.06.009. Epub 2018 Jul 9. Eur J Paediatr Neurol. 2018. PMID: 30054086

10

Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency.

Turkyilmaz A, Alavanda C, Ates EA, Geckinli BB, Polat H, Gokcu M, Karakaya T, Cebi AH, Soylemez MA, Guney Aİ, Ata P, Arman A. Turkyilmaz A, et al. Among authors: cebi ah. J Assist Reprod Genet. 2022 Mar;39(3):695-710. doi: 10.1007/s10815-022-02408-0. Epub 2022 Jan 22. J Assist Reprod Genet. 2022. PMID: 35066699 Free PMC article.

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