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  • Rick M Tankard, Mark F Bennett, Peter Degorski, Martin B Delatycki, Paul J Lockhart, Melanie Bahlo
  • Biology, Medicine
  • American journal of human genetics
  • 2018 (First Published: 1 December 2018)
  • Repeat expansions cause more than 30 inherited disorders, predominantly neurogenetic. These can present with overlapping clinical phenotypes, making molecular diagnosis challenging. Single-gene orContinue Reading
  • Rick M Tankard, Martin B Delatycki, Paul J Lockhart, Melanie Bahlo
  • Biology
  • 2017 (First Published: 30 June 2017)
  • Repeat expansions cause over 30, predominantly neurogenetic, inherited disorders. These can present with overlapping clinical phenotypes, making molecular diagnosis challenging. Single gene or smallContinue Reading