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Page 1
HERC1 mutations in idiopathic intellectual disability.
Utine GE, Taşkıran EZ, Koşukcu C, Karaosmanoğlu B, Güleray N, Doğan ÖA, Kiper PÖ, Boduroğlu K, Alikaşifoğlu M. Utine GE, et al. Among authors: dogan oa. Eur J Med Genet. 2017 May;60(5):279-283. doi: 10.1016/j.ejmg.2017.03.007. Epub 2017 Mar 18. Eur J Med Genet. 2017. PMID: 28323226
Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome.
Taskiran EZ, Karaosmanoglu B, Koşukcu C, Doğan ÖA, Taylan-Şekeroğlu H, Şimşek-Kiper PÖ, Utine EG, Boduroğlu K, Alikaşifoğlu M. Taskiran EZ, et al. Among authors: dogan oa. Am J Med Genet A. 2017 Dec;173(12):3143-3152. doi: 10.1002/ajmg.a.38495. Epub 2017 Oct 8. Am J Med Genet A. 2017. PMID: 28988429
Peters Plus syndrome: a recognizable clinical entity.
Demir GÜ, Lafcı NG, Doğan ÖA, Şimşek-Kiper PÖ, Utine GE. Demir GÜ, et al. Among authors: dogan oa. Turk J Pediatr. 2020;62(1):136-140. doi: 10.24953/turkjped.2020.01.020. Turk J Pediatr. 2020. PMID: 32253880 Free article.
The same mutation in a family with adenosine deaminase 2 deficiency.
Sozeri B, Ercan G, Dogan OA, Yıldız J, Demir F, Doğanay L. Sozeri B, et al. Among authors: dogan oa. Rheumatol Int. 2021 Jan;41(1):227-233. doi: 10.1007/s00296-019-04444-z. Epub 2019 Sep 20. Rheumatol Int. 2021. PMID: 31541281 Review.
21 results