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Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3.
Simsek-Kiper PO, Jacob P, Upadhyai P, Taşkıran ZE, Guleria VS, Karaosmanoglu B, Imren G, Gocmen R, Bhavani GS, Kausthubham N, Shah H, Utine GE, Boduroglu K, Girisha KM. Simsek-Kiper PO, et al. Among authors: karaosmanoglu b. Hum Mutat. 2022 Dec;43(12):2116-2129. doi: 10.1002/humu.24478. Epub 2022 Oct 8. Hum Mutat. 2022. PMID: 36150098 Free PMC article. Review.
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: karaosmanoglu b. 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: karaosmanoglu b. 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
Novel insights into diabetes mellitus due to DNAJC3-defect: Evolution of neurological and endocrine phenotype in the pediatric age group.
Ozon ZA, Alikasifoglu A, Kandemir N, Aydin B, Gonc EN, Karaosmanoglu B, Celik NB, Eroglu-Ertugrul NG, Taskiran EZ, Haliloglu G, Oguz KK, Kiper PO, Yalnizoglu D, Utine GE, Alikasifoglu M. Ozon ZA, et al. Among authors: karaosmanoglu b. Pediatr Diabetes. 2020 Nov;21(7):1176-1182. doi: 10.1111/pedi.13098. Epub 2020 Sep 10. Pediatr Diabetes. 2020. PMID: 32738013
Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability.
Taşkıran EZ, Karaosmanoğlu B, Koşukcu C, Ürel-Demir G, Akgün-Doğan Ö, Şimşek-Kiper PÖ, Alikaşifoğlu M, Boduroğlu K, Utine GE. Taşkıran EZ, et al. Among authors: karaosmanoglu b. J Intellect Disabil Res. 2021 Jun;65(6):577-588. doi: 10.1111/jir.12835. Epub 2021 Mar 19. J Intellect Disabil Res. 2021. PMID: 33739554
The rare reason of pain in hip girdle: Mucolipidosis type 3 gamma.
Kolkıran A, Karaosmanoğlu B, Taşkıran ZE, Şimşek-Kiper PÖ, Utine GE. Kolkıran A, et al. Among authors: karaosmanoglu b. Turk J Pediatr. 2021;63(6):1091-1096. doi: 10.24953/turkjped.2021.06.019. Turk J Pediatr. 2021. PMID: 35023661 Free article.
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