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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: cogulu o. Eur J Haematol. 2024 Mar 31. doi: 10.1111/ejh.14194. Online ahead of print. Eur J Haematol. 2024. PMID: 38556258
A rare sex chromosome aneuploidy: 48,XXYY syndrome.
Atik T, Çoğulu Ö, Özkınay F. Atik T, et al. Among authors: cogulu o. 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.
A rare cause of syndromic short stature: 3M syndrome in three families.
Isik E, Arican D, Atik T, Ooi JE, Darcan S, Ozen S, Simsek Kiper PO, Utine E, Cogulu O, Ozkinay F. Isik E, et al. Among authors: cogulu o. Am J Med Genet A. 2021 Feb;185(2):461-468. doi: 10.1002/ajmg.a.61989. Epub 2020 Nov 30. Am J Med Genet A. 2021. PMID: 33258289
LSM1 is the new candidate gene for neurodevelopmental disorder.
Kok Kilic G, Isik E, Alpay O, Atik T, Aykut A, Durmaz A, Cogulu O, Ozkinay F. Kok Kilic G, et al. Among authors: cogulu o. Eur J Med Genet. 2022 Nov;65(11):104610. doi: 10.1016/j.ejmg.2022.104610. Epub 2022 Sep 12. Eur J Med Genet. 2022. PMID: 36100156
157 results