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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.
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss.
Bademci G, Abad C, Incesulu A, Rad A, Alper O, Kolb SM, Cengiz FB, Diaz-Horta O, Silan F, Mihci E, Ocak E, Najafi M, Maroofian R, Yilmaz E, Nur BG, Duman D, Guo S, Sant DW, Wang G, Monje PV, Haaf T, Blanton SH, Vona B, Walz K, Tekin M. Bademci G, et al. Among authors: yilmaz e. Hum Genet. 2018 Jul;137(6-7):479-486. doi: 10.1007/s00439-018-1901-4. Epub 2018 Jul 7. Hum Genet. 2018. PMID: 29982980 Free PMC article.
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.
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
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.
1,844 results