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Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang JS, Weghuber D, Wortmann S. Vogel GF, et al. Among authors: ersoy m. Genet Med. 2023 Jun;25(6):100314. doi: 10.1016/j.gim.2022.09.015. Epub 2022 Oct 29. Genet Med. 2023. PMID: 36305855 Free article.
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: ersoy m. 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
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.
Seker Yilmaz B, Baruteau J, Arslan N, Aydin HI, Barth M, Bozaci AE, Brassier A, Canda E, Cano A, Chronopoulou E, Connolly GM, Damaj L, Dawson C, Dobbelaere D, Douillard C, Eminoglu FT, Erdol S, Ersoy M, Fang S, Feillet F, Gokcay G, Goksoy E, Gorce M, Inci A, Kadioglu B, Kardas F, Kasapkara CS, Kilic Yildirim G, Kor D, Kose M, Marelli C, Mundy H, O'Sullivan S, Ozturk Hismi B, Ramachandran R, Roubertie A, Sanlilar M, Schiff M, Sreekantam S, Stepien KM, Uzun Unal O, Yildiz Y, Zubarioglu T, Gissen P. Seker Yilmaz B, et al. Among authors: ersoy m. Life (Basel). 2022 Oct 27;12(11):1721. doi: 10.3390/life12111721. Life (Basel). 2022. PMID: 36362876 Free PMC article.
Early Postnatal Metabolic Profile in Neonates With Different Birth Weight Status: A Pilot Study.
Beken S, Abali S, Yildirim Saral N, Guner B, Dinc T, Albayrak E, Ersoy M, Kilercik M, Halici M, Bulbul E, Kaya D, Karabay M, Ay ZA, Eksi GZ, Benli Aksungar F, Korkmaz A, Serteser M. Beken S, et al. Among authors: ersoy m. Front Pediatr. 2021 Apr 27;9:646860. doi: 10.3389/fped.2021.646860. eCollection 2021. Front Pediatr. 2021. PMID: 33987152 Free PMC article.
133 results