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Year Number of Results
2002 4
2003 3
2004 2
2005 5
2006 2
2007 5
2008 3
2009 2
2010 2
2011 1
2012 4
2013 1
2015 1
2016 1
2017 3
2018 1
2019 3
2021 3
2022 3
2023 2
2024 2

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47 results

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Page 1
WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.
Yokote K, Chanprasert S, Lee L, Eirich K, Takemoto M, Watanabe A, Koizumi N, Lessel D, Mori T, Hisama FM, Ladd PD, Angle B, Baris H, Cefle K, Palanduz S, Ozturk S, Chateau A, Deguchi K, Easwar TK, Federico A, Fox A, Grebe TA, Hay B, Nampoothiri S, Seiter K, Streeten E, Piña-Aguilar RE, Poke G, Poot M, Posmyk R, Martin GM, Kubisch C, Schindler D, Oshima J. Yokote K, et al. Among authors: cefle k. Hum Mutat. 2017 Jan;38(1):7-15. doi: 10.1002/humu.23128. Epub 2016 Oct 7. Hum Mutat. 2017. PMID: 27667302 Free PMC article. Review.
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.
Bayram Y, White JJ, Elcioglu N, Cho MT, Zadeh N, Gedikbasi A, Palanduz S, Ozturk S, Cefle K, Kasapcopur O, Coban Akdemir Z, Pehlivan D, Begtrup A, Carvalho CMB, Paine IS, Mentes A, Bektas-Kayhan K, Karaca E, Jhangiani SN, Muzny DM; Baylor-Hopkins Center for Mendelian Genomics; Gibbs RA, Lupski JR. Bayram Y, et al. Among authors: cefle k. Am J Hum Genet. 2017 Jul 6;101(1):149-156. doi: 10.1016/j.ajhg.2017.06.006. Am J Hum Genet. 2017. PMID: 28686854 Free PMC article.
Long-term efficacy of canakinumab in hyperimmunoglobulin D syndrome.
Ozdemir Isik O, Karadag DT, Tekeoglu S, Yazici A, Cefle K, Cefle A. Ozdemir Isik O, et al. Among authors: cefle k. Int J Rheum Dis. 2024 Jan;27(1):e14857. doi: 10.1111/1756-185X.14857. Epub 2023 Aug 14. Int J Rheum Dis. 2024. PMID: 37578023
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis.
Diggle CP, Parry DA, Logan CV, Laissue P, Rivera C, Restrepo CM, Fonseca DJ, Morgan JE, Allanore Y, Fontenay M, Wipff J, Varret M, Gibault L, Dalantaeva N, Korbonits M, Zhou B, Yuan G, Harifi G, Cefle K, Palanduz S, Akoglu H, Zwijnenburg PJ, Lichtenbelt KD, Aubry-Rozier B, Superti-Furga A, Dallapiccola B, Accadia M, Brancati F, Sheridan EG, Taylor GR, Carr IM, Johnson CA, Markham AF, Bonthron DT. Diggle CP, et al. Among authors: cefle k. Hum Mutat. 2012 Aug;33(8):1175-81. doi: 10.1002/humu.22111. Epub 2012 May 29. Hum Mutat. 2012. PMID: 22553128
DNA damage effects of inhalation anesthetics in human bronchoalveolar cells.
Cukurova Z, Cetingok H, Ozturk S, Gedikbasi A, Hergunsel O, Ozturk D, Don B, Cefle K, Palanduz S, Ertem DH. Cukurova Z, et al. Among authors: cefle k. Medicine (Baltimore). 2019 Aug;98(32):e16518. doi: 10.1097/MD.0000000000016518. Medicine (Baltimore). 2019. PMID: 31393354 Free PMC article. Clinical Trial.
Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey.
Berkay EG, Elkanova L, Kalaycı T, Uludağ Alkaya D, Altunoğlu U, Cefle K, Mıhçı E, Nur B, Taşdelen E, Bayramoğlu Z, Karaman V, Toksoy G, Güneş N, Öztürk Ş, Palandüz Ş, Kayserili H, Tüysüz B, Uyguner ZO. Berkay EG, et al. Among authors: cefle k. Am J Med Genet A. 2021 Aug;185(8):2488-2495. doi: 10.1002/ajmg.a.62261. Epub 2021 May 13. Am J Med Genet A. 2021. PMID: 33987976
47 results