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De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.
Castilla-Vallmanya L, Gürsoy S, Giray-Bozkaya Ö, Prat-Planas A, Bullich G, Matalonga L, Centeno-Pla M, Rabionet R, Grinberg D, Balcells S, Urreizti R. Castilla-Vallmanya L, et al. Among authors: giray bozkaya o. Int J Mol Sci. 2021 Feb 4;22(4):1549. doi: 10.3390/ijms22041549. Int J Mol Sci. 2021. PMID: 33557041 Free PMC article.
A newborn with monosomy X in association with corpus callosum agenesis.
Onur Cura D, Iscan B, Gursoy S, Guleryuz H, Cankaya T, Ozturk T, Giray Bozkaya O. Onur Cura D, et al. Among authors: giray bozkaya o. Pediatr Neonatol. 2017 Oct;58(5):455-457. doi: 10.1016/j.pedneo.2016.05.006. Epub 2016 Nov 28. Pediatr Neonatol. 2017. PMID: 28117231 Free article. No abstract available.
Phenotypic spectrum of CHARGE syndrome based on clinical characteristics.
Aksel Kılıçarslan Ö, Ataman E, Gürsoy S, Hazan F, Randa C, Çankaya T, Erçal D, Ülgenalp A, Giray Bozkaya Ö. Aksel Kılıçarslan Ö, et al. Among authors: giray bozkaya o. Turk J Med Sci. 2018 Oct 31;48(5):911-915. doi: 10.3906/sag-1611-107. Turk J Med Sci. 2018. PMID: 30384553 Free article.
Investigation of the most common clinical and imaging findings and the role of tubulin genes in the etiology of malformations of cortical development.
Aksel Kiliçarslan Ö, Ataman E, Gürsoy S, Gürbüz G, Ünalp A, Gençpinar P, Olgaç Dündar N, Edizer S, Ülgenalp A, Giray Bozkaya Ö. Aksel Kiliçarslan Ö, et al. Among authors: giray bozkaya o. Turk J Med Sci. 2020 Oct 22;50(6):1573-1579. doi: 10.3906/sag-1901-170. Turk J Med Sci. 2020. PMID: 32718119 Free PMC article.
Hemoglobin A1C can differentiate subjects with GCK mutations among patients suspected to have MODY.
Yılmaz Uzman C, Erbaş İM, Giray Bozkaya Ö, Paketçi A, Çağlayan AO, Abacı A, Kulalı MA, Böber E, Kekilli A, Çinleti T, Erçal MD, Demir K. Yılmaz Uzman C, et al. Among authors: giray bozkaya o. J Pediatr Endocrinol Metab. 2022 Oct 5;35(12):1528-1536. doi: 10.1515/jpem-2022-0381. Print 2022 Dec 16. J Pediatr Endocrinol Metab. 2022. PMID: 36197956
12 results