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Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.
Frazier AE, Compton AG, Kishita Y, Hock DH, Welch AE, Amarasekera SSC, Rius R, Formosa LE, Imai-Okazaki A, Francis D, Wang M, Lake NJ, Tregoning S, Jabbari JS, Lucattini A, Nitta KR, Ohtake A, Murayama K, Amor DJ, McGillivray G, Wong FY, van der Knaap MS, Jeroen Vermeulen R, Wiltshire EJ, Fletcher JM, Lewis B, Baynam G, Ellaway C, Balasubramaniam S, Bhattacharya K, Freckmann ML, Arbuckle S, Rodriguez M, Taft RJ, Sadedin S, Cowley MJ, Minoche AE, Calvo SE, Mootha VK, Ryan MT, Okazaki Y, Stroud DA, Simons C, Christodoulou J, Thorburn DR. Frazier AE, et al. Among authors: okazaki y. Med (N Y). 2021 Jan 15;2(1):49-73. doi: 10.1016/j.medj.2020.06.004. Epub 2020 Jul 9. Med (N Y). 2021. PMID: 33575671 Free PMC article.
Clinical impact of myositis-specific autoantibodies on long-term prognosis of juvenile idiopathic inflammatory myopathies: multicenter study.
Yamasaki Y, Kobayashi N, Akioka S, Yamazaki K, Takezaki S, Nakaseko H, Ohara A, Nishimura K, Nishida Y, Sato S, Kishi T, Hashimoto M, Mori M, Okazaki Y, Kuwana M, Ohta A. Yamasaki Y, et al. Among authors: okazaki y. Rheumatology (Oxford). 2021 Feb 5:keab108. doi: 10.1093/rheumatology/keab108. Online ahead of print. Rheumatology (Oxford). 2021. PMID: 33576399
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