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Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing.
Schmidt JL, Pizzino A, Nicholl J, Foley A, Wang Y, Rosenfeld JA, Mighion L, Bean L, da Silva C, Cho MT, Truty R, Garcia J, Speare V, Blanco K, Powis Z, Hobson GM, Kirwin S, Krock B, Lee H, Deignan JL, Westemeyer MA, Subaran RL, Thiffault I, Tsai EA, Fang T, Helman G, Vanderver A. Schmidt JL, et al. Am J Med Genet A. 2020 Aug;182(8):1906-1912. doi: 10.1002/ajmg.a.61641. Epub 2020 Jun 23. Am J Med Genet A. 2020. PMID: 32573057
Tafazzin splice variants and mutations in Barth syndrome.
Kirwin SM, Manolakos A, Barnett SS, Gonzalez IL. Kirwin SM, et al. Mol Genet Metab. 2014 Jan;111(1):26-32. doi: 10.1016/j.ymgme.2013.11.006. Epub 2013 Nov 19. Mol Genet Metab. 2014. PMID: 24342716
Leptin enhances lung maturity in the fetal rat.
Kirwin SM, Bhandari V, Dimatteo D, Barone C, Johnson L, Paul S, Spitzer AR, Chander A, Hassink SG, Funanage VL. Kirwin SM, et al. Pediatr Res. 2006 Aug;60(2):200-4. doi: 10.1203/01.pdr.0000227478.29271.52. Pediatr Res. 2006. PMID: 16864704
19 results