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Monozygotic twins discordant for trisomy 13.
Ramsey KW, Slavin TP, Graham G, Hirata GI, Balaraman V, Seaver LH. Ramsey KW, et al. Among authors: seaver lh. J Perinatol. 2012 Apr;32(4):306-8. doi: 10.1038/jp.2011.123. J Perinatol. 2012. PMID: 22460600
The perinatal presentation of cardiofaciocutaneous syndrome.
Wong Ramsey KN, Loichinger MH, Slavin TP, Kuo S, Seaver LH. Wong Ramsey KN, et al. Among authors: seaver lh. Am J Med Genet A. 2014 Aug;164A(8):2036-42. doi: 10.1002/ajmg.a.36558. Epub 2014 Apr 9. Am J Med Genet A. 2014. PMID: 24719372
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.
Carter LB, Battaglia A, Cherry A, Manning MA, Ruzhnikov MR, Bird LM, Dowsett L, Graham JM Jr, Alkuraya FS, Hashem M, Dinulos MB, Vallee S, Adam MP, Glass I, Beck AE, Stevens CA, Zackai E, McDougall C, Keena B, Peron A, Vignoli A, Seaver LH, Slavin TP, Hudgins L. Carter LB, et al. Among authors: seaver lh. Am J Med Genet A. 2019 Aug;179(8):1543-1546. doi: 10.1002/ajmg.a.61266. Epub 2019 Jun 17. Am J Med Genet A. 2019. PMID: 31207089 Free PMC article. Review.
A dyadic approach to the delineation of diagnostic entities in clinical genomics.
Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, Giampietro PF, Girisha KM, Glass IA, Graham JM Jr, Gripp KW, Haldeman-Englert CR, Hall BD, Innes AM, Kalish JM, Keppler-Noreuil KM, Kosaki K, Kozel BA, Mirzaa GM, Mulvihill JJ, Nowaczyk MJM, Pagon RA, Retterer K, Rope AF, Sanchez-Lara PA, Seaver LH, Shieh JT, Slavotinek AM, Sobering AK, Stevens CA, Stevenson DA, Tan TY, Tan WH, Tsai AC, Weaver DD, Williams MS, Zackai E, Zarate YA. Biesecker LG, et al. Among authors: seaver lh. Am J Hum Genet. 2021 Jan 7;108(1):8-15. doi: 10.1016/j.ajhg.2020.11.013. Am J Hum Genet. 2021. PMID: 33417889 Free PMC article. Review.
61 results