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153 results

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Page 1
Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals.
Zubarioglu T, Kıykım E, Köse E, Eminoğlu FT, Teke Kısa P, Balcı MC, Özer I, İnci A, Çilesiz K, Canda E, Yazıcı H, Öztürk-Hişmi B, Bulut FD, Dorum S, Akgun A, Yalçın-Çakmaklı G, Kılıç-Yıldırım G, Soyuçen E, Akçalı A, Güneş D, Durmuş A, Gündüz A, Kasapkara ÇS, Göksoy E, Akar HT, Ersoy M, Erdöl Ş, Yıldız Y, Hanağası HA, Arslan N, Aktuğlu-Zeybek Ç. Zubarioglu T, et al. Among authors: ersoy m. Mol Genet Metab. 2024 Jun;142(2):108493. doi: 10.1016/j.ymgme.2024.108493. Epub 2024 May 13. Mol Genet Metab. 2024. PMID: 38772327
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.
Seker Yilmaz B, Baruteau J, Arslan N, Aydin HI, Barth M, Bozaci AE, Brassier A, Canda E, Cano A, Chronopoulou E, Connolly GM, Damaj L, Dawson C, Dobbelaere D, Douillard C, Eminoglu FT, Erdol S, Ersoy M, Fang S, Feillet F, Gokcay G, Goksoy E, Gorce M, Inci A, Kadioglu B, Kardas F, Kasapkara CS, Kilic Yildirim G, Kor D, Kose M, Marelli C, Mundy H, O'Sullivan S, Ozturk Hismi B, Ramachandran R, Roubertie A, Sanlilar M, Schiff M, Sreekantam S, Stepien KM, Uzun Unal O, Yildiz Y, Zubarioglu T, Gissen P. Seker Yilmaz B, et al. Among authors: ersoy m. Life (Basel). 2022 Oct 27;12(11):1721. doi: 10.3390/life12111721. Life (Basel). 2022. PMID: 36362876 Free PMC article.
Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey.
Guner Yilmaz B, Akgun-Dogan O, Ozdemir O, Yuksel B, Hatirnaz Ng O, Bilguvar K, Ay B, Ozkose GS, Aydin E, Yigit A, Bulut A, Esen FN, Beken S, Aktas S, Demirel A, Arcagok BC, Kazanci E, Bingol İ, Umur O, Sik G, Isik U, Ersoy M, Korkmaz A, Citak A, Mardinoglu A, Ozbek U, Alanay Y. Guner Yilmaz B, et al. Among authors: ersoy m. Front Pediatr. 2024 Jul 4;12:1412880. doi: 10.3389/fped.2024.1412880. eCollection 2024. Front Pediatr. 2024. PMID: 39026936 Free PMC article.
A rare structural myopathy: Nemaline myopathy.
Yeşilbaş O, Şevketoğlu E, Kıhtır HS, Ersoy M, Petmezci MT, Akkuş CH, Şahin Ö, Ceylaner S. Yeşilbaş O, et al. Among authors: ersoy m. Turk Pediatri Ars. 2019 Mar 1;54(1):49-52. doi: 10.5152/TurkPediatriArs.2018.4402. eCollection 2019. Turk Pediatri Ars. 2019. PMID: 31217710 Free PMC article.
Expert opinion on clinical presentation, diagnosis, and treatment of infantile-onset Pompe disease: a Delphi study in Türkiye.
Özsaydi Aktaşoğlu E, Inci A, Öktem RM, Biberoğlu G, Okur İ, Ezgü FS, Cengiz Ergin FB, Akgün A, Arslan N, Aydin Hİ, Bozaci AE, Çoker M, Eminoğlu FT, Ersoy M, Göksoy E, Kadioğlu Yilmaz B, Kağnici M, Kiliç M, Önenli Mungan N, Öztürk Hişmi B, Soylu Üstkoyuncu P, Tokatli A, Aktuğlu Zeybek AÇ, Bilginer Gürbüz B, Dorum S, Güneş D, Kasapkara ÇS, Kilavuz S, Soyuçen E, Teke Kisa P, Ünal Uzun Ö, Bulut FD, Gökay S, Has Özhan S, Kor D, Küçükçongar Yavaş A, Özçay F, Yildiz Y, Yildiz H, Tümer L. Özsaydi Aktaşoğlu E, et al. Among authors: ersoy m. Turk J Med Sci. 2024 Nov 20;55(3):585-594. doi: 10.55730/1300-0144.6005. eCollection 2025. Turk J Med Sci. 2024. PMID: 40686712 Free PMC article.
Abdominal Inflammatory Myofibroblastic Tumor: A Rare Case.
Tastekin F, Ersoy M, Temel T, Ozgenel SM, Canaz F, Özakyol A. Tastekin F, et al. Among authors: ersoy m. Euroasian J Hepatogastroenterol. 2016 Jul-Dec;6(2):183-185. doi: 10.5005/jp-journals-10018-1196. Epub 2016 Dec 1. Euroasian J Hepatogastroenterol. 2016. PMID: 29201756 Free PMC article.
153 results