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Ritscher-Schinzel (3C) syndrome: documentation of the phenotype.
Kosaki K, Curry CJ, Roeder E, Jones KL. Kosaki K, et al. Among authors: roeder e. Am J Med Genet. 1997 Feb 11;68(4):421-7. doi: 10.1002/(sici)1096-8628(19970211)68:4<421::aid-ajmg10>3.0.co;2-u. Am J Med Genet. 1997. PMID: 9021015 Review.
Trisomy 12 mosaicism confirmed in multiple organs from a liveborn child.
DeLozier-Blanchet CD, Roeder E, Denis-Arrue R, Blouin JL, Low J, Fisher J, Scharnhorst D, Curry CJ. DeLozier-Blanchet CD, et al. Among authors: roeder e. Am J Med Genet. 2000 Dec 18;95(5):444-9. doi: 10.1002/1096-8628(20001218)95:5<444::aid-ajmg7>3.0.co;2-x. Am J Med Genet. 2000. PMID: 11146464
MICRO syndrome: an entity distinct from COFS syndrome.
Graham JM Jr, Hennekam R, Dobyns WB, Roeder E, Busch D. Graham JM Jr, et al. Among authors: roeder e. Am J Med Genet A. 2004 Jul 30;128A(3):235-45. doi: 10.1002/ajmg.a.30060. Am J Med Genet A. 2004. PMID: 15216543 Review.
Neonatal phenotype in Kabuki syndrome.
Vaux KK, Hudgins L, Bird LM, Roeder E, Curry CJ, Jones M, Jones KL. Vaux KK, et al. Among authors: roeder e. Am J Med Genet A. 2005 Jan 30;132A(3):244-7. doi: 10.1002/ajmg.a.30336. Am J Med Genet A. 2005. PMID: 15690369
Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals.
Sebold C, Roeder E, Zimmerman M, Soileau B, Heard P, Carter E, Schatz M, White WA, Perry B, Reinker K, O'Donnell L, Lancaster J, Li J, Hasi M, Hill A, Pankratz L, Hale DE, Cody JD. Sebold C, et al. Among authors: roeder e. Am J Med Genet A. 2010 Sep;152A(9):2164-72. doi: 10.1002/ajmg.a.33597. Am J Med Genet A. 2010. PMID: 20803640
136 results