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Obstacles and expectations of rare disease patients and their families in Türkiye: ISTisNA project survey results.
Hatirnaz Ng O, Sahin I, Erbilgin Y, Ozdemir O, Yucesan E, Erturk N, Yemenici M, Akgun Dogan O, Ugur Iseri SA, Satman I, Alanay Y, Ozbek U. Hatirnaz Ng O, et al. Among authors: ozdemir o. Front Public Health. 2023 Jan 4;10:1049349. doi: 10.3389/fpubh.2022.1049349. eCollection 2022. Front Public Health. 2023. PMID: 36684907 Free PMC article.
Bromodomain-containing protein 2 gene in photosensitive epilepsy.
Yavuz EN, Ozdemir O, Catal S, Bebek N, Ozbek U, Baykan B. Yavuz EN, et al. Among authors: ozdemir o. Seizure. 2012 Oct;21(8):646-8. doi: 10.1016/j.seizure.2012.06.008. Epub 2012 Jul 4. Seizure. 2012. PMID: 22766109 Free article.
The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey.
Haryanyan G, Ozdemir O, Tutkavul K, Dervent A, Ayta S, Ozkara C, Salman B, Yucesan E, Kesim Y, Susgun S, Ozbek U, Baykan B, Ugur Iseri SA, Bebek N. Haryanyan G, et al. Among authors: ozdemir o. J Hum Genet. 2021 Dec;66(12):1145-1151. doi: 10.1038/s10038-021-00944-8. Epub 2021 Jun 11. J Hum Genet. 2021. PMID: 34117373
Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center.
Akgun-Dogan O, Tuc Bengur E, Ay B, Ozkose GS, Kar E, Bengur FB, Bulut AS, Yigit A, Aydin E, Esen FN, Ozdemir O, Yesilyurt A, Alanay Y. Akgun-Dogan O, et al. Among authors: ozdemir o. Front Genet. 2024 Mar 15;15:1347474. doi: 10.3389/fgene.2024.1347474. eCollection 2024. Front Genet. 2024. PMID: 38560291 Free PMC article.
934 results