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Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Arts P, Simons A, AlZahrani MS, Yilmaz E, AlIdrissi E, van Aerde KJ, Alenezi N, AlGhamdi HA, AlJubab HA, Al-Hussaini AA, AlManjomi F, Alsaad AB, Alsaleem B, Andijani AA, Asery A, Ballourah W, Bleeker-Rovers CP, van Deuren M, van der Flier M, Gerkes EH, Gilissen C, Habazi MK, Hehir-Kwa JY, Henriet SS, Hoppenreijs EP, Hortillosa S, Kerkhofs CH, Keski-Filppula R, Lelieveld SH, Lone K, MacKenzie MA, Mensenkamp AR, Moilanen J, Nelen M, Ten Oever J, Potjewijd J, van Paassen P, Schuurs-Hoeijmakers JHM, Simon A, Stokowy T, van de Vorst M, Vreeburg M, Wagner A, van Well GTJ, Zafeiropoulou D, Zonneveld-Huijssoon E, Veltman JA, van Zelst-Stams WAG, Faqeih EA, van de Veerdonk FL, Netea MG, Hoischen A. Arts P, et al. Among authors: yilmaz e. Genome Med. 2019 Jun 17;11(1):38. doi: 10.1186/s13073-019-0649-3. Genome Med. 2019. PMID: 31203817 Free PMC article.
Recent Advances in Craniosynostosis.
Yilmaz E, Mihci E, Nur B, Alper ÖM, Taçoy Ş. Yilmaz E, et al. Pediatr Neurol. 2019 Oct;99:7-15. doi: 10.1016/j.pediatrneurol.2019.01.018. Epub 2019 Feb 2. Pediatr Neurol. 2019. PMID: 31421914 Review.
Novel Gene Variants Associated with Primary Ciliary Dyskinesia.
Demir Eksi D, Yilmaz E, Basaran AE, Erduran G, Nur B, Mihci E, Karadag B, Bingol A, Alper OM. Demir Eksi D, et al. Among authors: yilmaz e. Indian J Pediatr. 2022 Jul;89(7):682-691. doi: 10.1007/s12098-022-04098-z. Epub 2022 Mar 3. Indian J Pediatr. 2022. PMID: 35239159
A novel AXIN2 gene mutation in sagittal synostosis.
Yilmaz E, Mihci E, Guzel Nur B, Alper OM. Yilmaz E, et al. Am J Med Genet A. 2018 Sep;176(9):1976-1980. doi: 10.1002/ajmg.a.40373. Epub 2018 Aug 8. Am J Med Genet A. 2018. PMID: 30088857
Clinical and genetic findings of two cases with Apert syndrome.
Cammarata-Scalisi F, Yilmaz E, Callea M, Avendaño A, Mıhçı E, Alper OM. Cammarata-Scalisi F, et al. Among authors: yilmaz e. Bol Med Hosp Infant Mex. 2019;76(1):44-48. doi: 10.24875/BMHIM.18000053. Bol Med Hosp Infant Mex. 2019. PMID: 30657466 English.
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: yilmaz e. 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.
1,720 results