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Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Wong HH, Seet SH, Maier M, Gurel A, Traspas RM, Lee C, Zhang S, Talim B, Loh AYT, Chia CY, Teoh TS, Sng D, Rensvold J, Unal S, Shishkova E, Cepni E, Nathan FM, Sirota FL, Liang C, Yarali N, Simsek-Kiper PO, Mitani T, Ceylaner S, Arman-Bilir O, Mbarek H, Gumruk F, Efthymiou S, Çïmen DU, Georgiadou D, Sotiropoulou K, Houlden H, Paul F, Pehlivan D, Lainé C, Chai G, Ali NA, Choo SC, Keng SS, Boisson B, Yılmaz E, Xue S, Coon JJ, Nguyen Ly TT, Gilani N, Hasbini D, Kayserili H, Zaki MS, Isfort RJ, Ordonez N, Tripolszki K, Bauer P, Rezaei N, Seyedpour S, Khotaei GT, Bascom CC, Maroofian R, Chaabouni M, Alsubhi A, Eyaid W, Işıkay S, Gleeson JG, Lupski JR, Casanova JL, Pagliarini DJ, Akarsu NA, Maurer-Stroh S, Cetinkaya A, Bertoli-Avella A, Mathuru AS, Ho L, Bard FA, Reversade B. Wong HH, et al. Among authors: ceylaner s. Am J Hum Genet. 2021 Jul 1;108(7):1356. doi: 10.1016/j.ajhg.2021.06.009. Am J Hum Genet. 2021. PMID: 34214448 Free PMC article. No abstract available.
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Wong HH, Seet SH, Maier M, Gurel A, Traspas RM, Lee C, Zhang S, Talim B, Loh AYT, Chia CY, Teoh TS, Sng D, Rensvold J, Unal S, Shishkova E, Cepni E, Nathan FM, Sirota FL, Liang C, Yarali N, Simsek-Kiper PO, Mitani T, Ceylaner S, Arman-Bilir O, Mbarek H, Gumruk F, Efthymiou S, Uğurlu Çi Men D, Georgiadou D, Sotiropoulou K, Houlden H, Paul F, Pehlivan D, Lainé C, Chai G, Ali NA, Choo SC, Keng SS, Boisson B, Yılmaz E, Xue S, Coon JJ, Ly TTN, Gilani N, Hasbini D, Kayserili H, Zaki MS, Isfort RJ, Ordonez N, Tripolszki K, Bauer P, Rezaei N, Seyedpour S, Khotaei GT, Bascom CC, Maroofian R, Chaabouni M, Alsubhi A, Eyaid W, Işıkay S, Gleeson JG, Lupski JR, Casanova JL, Pagliarini DJ, Akarsu NA, Maurer-Stroh S, Cetinkaya A, Bertoli-Avella A, Mathuru AS, Ho L, Bard FA, Reversade B. Wong HH, et al. Among authors: ceylaner s. Am J Hum Genet. 2021 Jul 1;108(7):1301-1317. doi: 10.1016/j.ajhg.2021.05.003. Epub 2021 May 25. Am J Hum Genet. 2021. PMID: 34038740 Free PMC article.
An infant with glutaric aciduria type IIc diagnosed with a novel mutation.
Işıkay S, Yaman A, Ceylaner S. Işıkay S, et al. Among authors: ceylaner s. Turk J Pediatr. 2017;59(3):315-317. doi: 10.24953/turkjped.2017.03.013. Turk J Pediatr. 2017. PMID: 29376578 Free article.
Isikay S, Yaman A, Ceylaner S. An infant with glutaric aciduria type IIc diagnosed with a novel mutation. ...
Isikay S, Yaman A, Ceylaner S. An infant with glutaric aciduria type IIc diagnosed with a novel mutation. ...
More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome.
Dhooge T, Van Damme T, Syx D, Mosquera LM, Nampoothiri S, Radhakrishnan A, Simsek-Kiper PO, Utine GE, Bonduelle M, Migeotte I, Essawi O, Ceylaner S, Al Kindy A, Tinkle B, Symoens S, Malfait F. Dhooge T, et al. Among authors: ceylaner s. Hum Mutat. 2021 Jun;42(6):711-730. doi: 10.1002/humu.24199. Epub 2021 Apr 6. Hum Mutat. 2021. PMID: 33739556 Review.
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group; Johnson C, Attié-Bitach T, Gleeson JG, Valente EM. Travaglini L, et al. Eur J Hum Genet. 2013 Oct;21(10):1074-8. doi: 10.1038/ejhg.2012.305. Epub 2013 Feb 6. Eur J Hum Genet. 2013. PMID: 23386033 Free PMC article.
Ataxia, tremor, intellectual disability: a case of STXBP1 encephalopathy with a new mutation.
Değerliyurt A, Kesen GG, Ceylaner S. Değerliyurt A, et al. Among authors: ceylaner s. Turk J Pediatr. 2019;61(5):757-759. doi: 10.24953/turkjped.2019.05.015. Turk J Pediatr. 2019. PMID: 32105008 Free article.
Degerliyurt A, Gezgen Kesen G, Ceylaner S. Ataxia, tremor, intellectual disability: a case of STXBP1 encephalopathy with a new mutation. ...
Degerliyurt A, Gezgen Kesen G, Ceylaner S. Ataxia, tremor, intellectual disability: a case of STXBP1 encephalopathy with a new …
p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency.
Şeker-Yılmaz B, Kör D, Tümgör G, Ceylaner S, Önenli-Mungan N. Şeker-Yılmaz B, et al. Among authors: ceylaner s. Turk J Pediatr. 2017;59(3):311-314. doi: 10.24953/turkjped.2017.03.012. Turk J Pediatr. 2017. PMID: 29376577 Free article.
Seker-Yilmaz B, Kor D, Tumgor G, Ceylaner S, Onenli-Mungan N. p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency. ...
Seker-Yilmaz B, Kor D, Tumgor G, Ceylaner S, Onenli-Mungan N. p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient w …
238 results