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A patient with mitochondrial disorder due to a novel mutation in MRPS22.
Kılıç M, Oğuz KK, Kılıç E, Yüksel D, Demirci H, Sağıroğlu MŞ, Yücel-Yılmaz D, Özgül RK. Kılıç M, et al. Among authors: yuksel d. Metab Brain Dis. 2017 Oct;32(5):1389-1393. doi: 10.1007/s11011-017-0074-5. Epub 2017 Jul 27. Metab Brain Dis. 2017. PMID: 28752220
Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia.
Masuho I, Fang M, Geng C, Zhang J, Jiang H, Özgul RK, Yılmaz DY, Yalnızoğlu D, Yüksel D, Yarrow A, Myers A, Burn SC, Crotwell PL, Padilla-Lopez S, Dursun A, Martemyanov KA, Kruer MC. Masuho I, et al. Among authors: yuksel d. Neurol Genet. 2016 May 12;2(3):e78. doi: 10.1212/NXG.0000000000000078. eCollection 2016 Jun. Neurol Genet. 2016. PMID: 27222887 Free PMC article. No abstract available.
PMM2-CDG and sensorineural hearing loss.
Kasapkara ÇS, Barış Z, Kılıç M, Yüksel D, Keldermans L, Matthijs G, Jaeken J. Kasapkara ÇS, et al. Among authors: yuksel d. J Inherit Metab Dis. 2017 Sep;40(5):629-630. doi: 10.1007/s10545-017-0073-z. Epub 2017 Jul 31. J Inherit Metab Dis. 2017. PMID: 28762107 No abstract available.
First manifestation of citrullinemia type I as Sandifer syndrome.
Kılıç M, Altınel-Açoğlu E, Zorlu P, Yüksel D, Bülbül S, Haeberle J. Kılıç M, et al. Among authors: yuksel d. Turk J Pediatr. 2017;59(6):696-698. doi: 10.24953/turkjped.2017.06.013. Turk J Pediatr. 2017. PMID: 30035404 Free article.
Kilic M, Altinel-Acoglu E, Zorlu P, Yuksel D, Bulbul S, Haeberle J. First manifestation of citrullinemia type I as Sandifer syndrome. ...
Kilic M, Altinel-Acoglu E, Zorlu P, Yuksel D, Bulbul S, Haeberle J. First manifestation of citrullinemia type I as Sandifer sy …
A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation.
Olgac A, Öztoprak Ü, Kasapkara ÇS, Kılıç M, Yüksel D, Derinkuyu EB, Taşçı Yıldız Y, Ceylaner S, Ezgu FS. Olgac A, et al. Among authors: yuksel d. J Pediatr Endocrinol Metab. 2020 Jan 28;33(1):165-170. doi: 10.1515/jpem-2019-0245. J Pediatr Endocrinol Metab. 2020. PMID: 31821167
Retrospective evaluation of patients with X-linked adrenoleukodystrophy with a wide range of clinical presentations: a single center experience.
Olgac A, Kasapkara ÇS, Derinkuyu B, Yüksel D, Çetinkaya S, Aksoy A, Ceylaner S, Güleray N, Yeşilipek A, Aydın Hİ, Orgun LT, Kılıç M. Olgac A, et al. Among authors: yuksel d. J Pediatr Endocrinol Metab. 2021 Jun 24;34(9):1169-1179. doi: 10.1515/jpem-2021-0032. Print 2021 Sep 27. J Pediatr Endocrinol Metab. 2021. PMID: 34162029 Clinical Trial.
265 results