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D-bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia.
Werner KM, Cox AJ, Qian E, Jain P, Ji W, Tikhonova I, Castaldi C, Bilguvar K, Knight J, Ferdinandusse S, Fawaz R, Jiang YH, Gallagher PG, Bizzarro M, Gruen JR, Bale A, Zhang H. Werner KM, et al. Among authors: knight j. Am J Med Genet A. 2021 Oct 8. doi: 10.1002/ajmg.a.62520. Online ahead of print. Am J Med Genet A. 2021. PMID: 34623748
Coronary Artery Disease in Young Women After Radiation Therapy for Breast Cancer: The WECARE Study.
Carlson LE, Watt GP, Tonorezos ES, Chow EJ, Yu AF, Woods M, Lynch CF, John EM, Mellemkjӕr L, Brooks JD, Knight JA, Reiner AS, Liang X, Smith SA, Bernstein L, Dauer LT, Cerviño LI, Howell RM, Shore RE, Boice JD Jr, Bernstein JL; WECARE Study Collaborative Group. Carlson LE, et al. Among authors: knight ja. JACC CardioOncol. 2021 Sep 21;3(3):381-392. doi: 10.1016/j.jaccao.2021.07.008. eCollection 2021 Sep. JACC CardioOncol. 2021. PMID: 34604798 Free PMC article.
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