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WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase.
Waddell LB, Bryen SJ, Cummings BB, Bournazos A, Evesson FJ, Joshi H, Marshall JL, Tukiainen T, Valkanas E, Weisburd B, Sadedin S, Davis MR, Faiz F, Gooding R, Sandaradura SA, O'Grady GL, Tchan MC, Mowat DR, Oates EC, Farrar MA, Sampaio H, Ma A, Neas K, Wang MX, Charlton A, Chan C, Kenwright DN, Graf N, Arbuckle S, Clarke NF, MacArthur DG, Jones KJ, Lek M, Cooper ST. Waddell LB, et al. Among authors: arbuckle s. Neurol Genet. 2021 Jan 29;7(1):e554. doi: 10.1212/NXG.0000000000000554. eCollection 2021 Feb. Neurol Genet. 2021. PMID: 33977140 Free PMC article.
Familial pleuropulmonary blastoma in Australia.
Cross SF, Arbuckle S, Priest JR, Marshall G, Charles A, Dalla Pozza L. Cross SF, et al. Among authors: arbuckle s. Pediatr Blood Cancer. 2010 Dec 15;55(7):1417-9. doi: 10.1002/pbc.22592. Pediatr Blood Cancer. 2010. PMID: 20981696
Congenital lobar emphysema: Like father, like son.
Roberts PA, Holland AJ, Halliday RJ, Arbuckle SM, Cass DT. Roberts PA, et al. Among authors: arbuckle sm. J Pediatr Surg. 2002 May;37(5):799-801. doi: 10.1053/jpsu.2002.32292. J Pediatr Surg. 2002. PMID: 11987106
103 results