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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. 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.
Familial Pallister-Hall syndrome.
Biesecker LG, Topf K, Graham JM Jr. Biesecker LG, et al. J Med Genet. 1994 Sep;31(9):740. doi: 10.1136/jmg.31.9.740-a. J Med Genet. 1994. PMID: 7880273 Free PMC article. No abstract available.
Molecular analysis of the 18q- syndrome--and correlation with phenotype.
Kline AD, White ME, Wapner R, Rojas K, Biesecker LG, Kamholz J, Zackai EH, Muenke M, Scott CI Jr, Overhauser J. Kline AD, et al. Among authors: biesecker lg. Am J Hum Genet. 1993 May;52(5):895-906. Am J Hum Genet. 1993. PMID: 8488839 Free PMC article. Review.
Pallister-Hall syndrome.
Biesecker LG, Graham JM Jr. Biesecker LG, et al. J Med Genet. 1996 Jul;33(7):585-9. doi: 10.1136/jmg.33.7.585. J Med Genet. 1996. PMID: 8818945 Free PMC article. No abstract available.
Report from the workshop on Pallister-Hall syndrome and related phenotypes.
Biesecker LG, Abbott M, Allen J, Clericuzio C, Feuillan P, Graham JM Jr, Hall J, Kang S, Olney AH, Lefton D, Neri G, Peters K, Verloes A. Biesecker LG, et al. Am J Med Genet. 1996 Oct 2;65(1):76-81. doi: 10.1002/(SICI)1096-8628(19961002)65:1<76::AID-AJMG12>3.0.CO;2-O. Am J Med Genet. 1996. PMID: 8914745 No abstract available.
432 results