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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
  1. Dr H R Slater, Cytogenetics Laboratory, VCGS Pathology, MCRI, Royal Children’s Hospital, Parkville, VIC 3052, Australia; howard.slater{at}ghsv.org.au
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Bruno DL, Ganesamoorthy D, Schoumans J, et al
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

Publication history

  • Received August 17, 2008
  • Revised October 28, 2008
  • Accepted November 1, 2008
  • First published November 17, 2008.
Online issue publication 
April 27, 2016

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