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Page 1
Asymmetry and skin pigmentary anomalies in chromosome mosaicism.
Woods CG, Bankier A, Curry J, Sheffield LJ, Slaney SF, Smith K, Voullaire L, Wellesley D. Woods CG, et al. Among authors: sheffield lj. J Med Genet. 1994 Sep;31(9):694-701. doi: 10.1136/jmg.31.9.694. J Med Genet. 1994. PMID: 7815438 Free PMC article.
Two forms of ring 13 in a child with rhabdomyosarcoma.
Voullaire LE, Petrovic V, Sheffield LJ, Campbell P. Voullaire LE, et al. Among authors: sheffield lj. Am J Med Genet. 1991 Jun 1;39(3):285-7. doi: 10.1002/ajmg.1320390308. Am J Med Genet. 1991. PMID: 1867278
Evidence that Rieger syndrome maps to 4q25 or 4q27.
Vaux C, Sheffield L, Keith CG, Voullaire L. Vaux C, et al. J Med Genet. 1992 Apr;29(4):256-8. doi: 10.1136/jmg.29.4.256. J Med Genet. 1992. PMID: 1583647 Free PMC article.
The elusive Angelman syndrome critical region.
Trent RJ, Sheffield LJ, Deng ZM, Kim WS, Nassif NT, Ryce C, Woods CG, Michaelis RC, Tarleton J, Smith A. Trent RJ, et al. Among authors: sheffield lj. J Med Genet. 1997 Sep;34(9):714-8. doi: 10.1136/jmg.34.9.714. J Med Genet. 1997. PMID: 9321755 Free PMC article.
Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.
Bruno DL, Ganesamoorthy D, Schoumans J, Bankier A, Coman D, Delatycki M, Gardner RJ, Hunter M, James PA, Kannu P, McGillivray G, Pachter N, Peters H, Rieubland C, Savarirayan R, Scheffer IE, Sheffield L, Tan T, White SM, Yeung A, Bowman Z, Ngo C, Choy KW, Cacheux V, Wong L, Amor DJ, Slater HR. Bruno DL, et al. J Med Genet. 2009 Feb;46(2):123-31. doi: 10.1136/jmg.2008.062604. Epub 2008 Nov 17. J Med Genet. 2009. PMID: 19015223
Glyceryl ethers in peroxisomal disease.
Poulos A, Bankier A, Beckman K, Johnson D, Robertson EF, Sharp P, Sheffield L, Singh H, Usher S, Wise G. Poulos A, et al. Clin Genet. 1991 Jan;39(1):13-25. doi: 10.1111/j.1399-0004.1991.tb02980.x. Clin Genet. 1991. PMID: 1705185
108 results