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Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.
Lin AE, Michot C, Cormier-Daire V, L'Ecuyer TJ, Matherne GP, Barnes BH, Humberson JB, Edmondson AC, Zackai E, O'Connor MJ, Kaplan JD, Ebeid MR, Krier J, Krieg E, Ghoshhajra B, Lindsay ME. Lin AE, et al. Among authors: l ecuyer tj. Am J Med Genet A. 2016 Oct;170(10):2617-31. doi: 10.1002/ajmg.a.37739. Epub 2016 Jun 14. Am J Med Genet A. 2016. PMID: 27302097 Review.
Bortezomib use in a pediatric cardiac transplant center.
Zinn MD, L'Ecuyer TJ, Fagoaga OR, Aggarwal S. Zinn MD, et al. Among authors: l ecuyer tj. Pediatr Transplant. 2014 Aug;18(5):469-76. doi: 10.1111/petr.12300. Epub 2014 Jun 14. Pediatr Transplant. 2014. PMID: 24931171
42 results