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Identification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysis.
Isik E, Aydinok Y, Albayrak C, Durmus B, Karakas Z, Orhan MF, Sarper N, Aydın S, Unal S, Oymak Y, Karadas N, Turedi A, Albayrak D, Tayfun F, Tugcu D, Karaman S, Tobu M, Unal E, Ozcan A, Unal S, Aksu T, Unuvar A, Bilici M, Azik F, Ay Y, Gelen SA, Zengin E, Albudak E, Eker I, Karakaya T, Cogulu O, Ozkinay F, Atik T. Isik E, et al. Among authors: ozkinay f. Eur J Haematol. 2024 Mar 31. doi: 10.1111/ejh.14194. Online ahead of print. Eur J Haematol. 2024. PMID: 38556258
Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations.
Atik T, Işık E, Onay H, Akgün B, Shamsali M, Kavaklı K, Evim M, Tüysüz G, Özbek NY, Şahin F, Salcıoğlu Z, Albayrak C, Oymak Y, Ünal E, Belen FB, Yılmaz Keskin E, Balkan C, Baytan B, Küpesiz A, Culha V, Tahtakesen Güçer TN, Güneş AM, Özkınay F. Atik T, et al. Among authors: ozkinay f. Turk J Haematol. 2020 Aug 28;37(3):145-153. doi: 10.4274/tjh.galenos.2020.2019.0262. Epub 2020 Feb 6. Turk J Haematol. 2020. PMID: 32026663 Free PMC article.
A rare sex chromosome aneuploidy: 48,XXYY syndrome.
Atik T, Çoğulu Ö, Özkınay F. Atik T, et al. Among authors: ozkinay f. Turk Pediatri Ars. 2016 Jun 1;51(2):106-9. doi: 10.5152/TurkPediatriArs.2016.1551. eCollection 2016 Jun. Turk Pediatri Ars. 2016. PMID: 27489468 Free PMC article.
HAX1 mutation positive children presenting with haemophagocytic lymphohistiocytosis.
Karapınar TH, Yılmaz Karapinar D, Oymak Y, Ay Y, Demirağ B, Aykut A, Onay H, Hazan F, Aydınok Y, Özkınay F, Vergin C. Karapınar TH, et al. Among authors: ozkinay f. Br J Haematol. 2017 May;177(4):597-600. doi: 10.1111/bjh.14574. Epub 2017 Feb 7. Br J Haematol. 2017. PMID: 28169428 Free article.
301 results