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Two cases of MEGDHEL syndrome diagnosed with hyperammonemia.
Molla GK, Kağnıcı M, Günlemez A, Yeni Y, Ünal Uzun Ö. Molla GK, et al. Among authors: kagnici m. J Pediatr Endocrinol Metab. 2022 Dec 15;36(2):203-206. doi: 10.1515/jpem-2022-0418. Print 2023 Feb 23. J Pediatr Endocrinol Metab. 2022. PMID: 36517456
Coexistence of Gaucher Disease and severe congenital neutropenia.
Kose MD, Canda E, Kağnıcı M, Uçar SK, Onay H, Yıldırım Sozmen E, Karapınar D, Özkınay F, Çoker M. Kose MD, et al. Among authors: kagnici m. Blood Cells Mol Dis. 2019 May;76:1-6. doi: 10.1016/j.bcmd.2018.07.001. Epub 2018 Aug 10. Blood Cells Mol Dis. 2019. PMID: 30473482
SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey.
Kose M, Canda E, Kagnici M, Aykut A, Adebali O, Durmaz A, Bircan A, Diniz G, Eraslan C, Kose E, Ünalp A, Yılmaz Ü, Ozyilmaz B, Özdemir TR, Atik T, Uçar SK, McFarland R, Taylor RW, Brown GK, Çoker M, Özkınay F. Kose M, et al. Among authors: kagnici m. Mol Genet Metab Rep. 2020 Oct 23;25:100657. doi: 10.1016/j.ymgmr.2020.100657. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 33134083 Free PMC article.
A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C.
Çolak R, Alkan Özdemir S, Yangın Ergon E, Kağnıcı M, Çalkavur Ş. Çolak R, et al. Among authors: kagnici m. Balkan Med J. 2017 Dec 1;34(6):580-583. doi: 10.4274/balkanmedj.2016.1376. Epub 2017 Apr 13. Balkan Med J. 2017. PMID: 28443597 Free PMC article.