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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: alper o. 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. Among authors: alper om. 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: alper om. Bol Med Hosp Infant Mex. 2019;76(1):44-48. doi: 10.24875/BMHIM.18000053. Bol Med Hosp Infant Mex. 2019. PMID: 30657466 English.
Recent Advances in Craniosynostosis.
Yilmaz E, Mihci E, Nur B, Alper ÖM, Taçoy Ş. Yilmaz E, et al. Among authors: alper om. 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: alper om. 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
48 results