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The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum.
Kose M, Isik E, Aykut A, Durmaz A, Kose E, Ersoy M, Diniz G, Adebali O, Ünalp A, Yilmaz Ü, Karaoğlu P, Edizer S, Tekin HG, Özdemir TR, Atik T, Onay H, Özkınay F. Kose M, et al. Among authors: kose e. J Pediatr Endocrinol Metab. 2021 Feb 24;34(4):417-430. doi: 10.1515/jpem-2020-0410. Print 2021 Apr 27. J Pediatr Endocrinol Metab. 2021. PMID: 33629572
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. 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: kose e. 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.
450 results