R. Fraser1, C.C. Young1, M. Nicola1, J. Suttle1, R. Kenyon 2, N. Manton3, S. Moore1 1 SA Cancer Cytogenetics Unit, Genetics and Molecular Pathology Directorate, SA Pathology, Adelaide, South Australia 2 ACRF Cancer Genome Facility, Adelaide, South Australia 3 Anatomical...
  • February 17, 2017
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Dale C Wright1, Luke St Heaps1, Geoff McCowage2, Nicole Graf3. 1The Children’s Hospital at Westmead, Sydney Genome Diagnostics, Cytogenetics, Westmead 2The Children’s Hospital at Westmead, Oncology, Westmead 3The Children’s Hospital at Westmead, Anatomical Pathology, Westmead BACKGOUND: Neuroblastomas show genetic and...
  • February 17, 2017
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MacKinnon R1,2, Wall M1,2,3 1Victorian Cancer Cytogenetics Service, St Vincent’s Hospital, Melbourne, 2Department of Medicine (St Vincent’s), University of Melbourne, 3St Vincent’s Institute of Medical Research   Abstract to come. Biography: Dr MacKinnon has investigated dicentric chromosome abnormalities in AML...
  • February 17, 2017
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Anna C Ritchie1, Shannon Cowie1, Desirée du Sart1. 1Molecular Genetics Laboratory, VCGS Pathology, Murdoch Childrens Research Institute, Flemington Rd, Parkville, Victoria 3052. Lynch syndrome is caused by a germline mutation in a mismatch repair gene (MLH1, MSH2, MSH6, PMS2 and...
  • February 17, 2017
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Benjamin M Nash1,2,3,4, Dale Wright2,4, Bruce Bennetts2,4, John Grigg1,3,4, Robyn V Jamieson1,3,4 1 Eye Genetics Research Unit, Children’s Medical Research Institute, Sydney Children’s Hospital Network, Hawkesbury Rd, Westmead, NSW 2145 Australia 2 Sydney Genome Diagnostics, Sydney Children’s Hospital Network, Hawkesbury...
  • February 17, 2017
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Hazel E Phillimore1, Rebecca Gould1, Belinda Chong1, Desirée Du Sart1 1 Molecular Genetics Laboratory, Victorian Clinical Genetics Service, Murdoch Children’s Research Institute/Royal Children’s Hospital, 50 Flemington Road, Parkville, Victoria, Australia Friedreich ataxia (FRDA) is a common autosomal recessive ataxia that...
  • February 17, 2017
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Peter Field1, Melinda Richter1, Nicole Martin1 1 Virtus Diagnostics – QFG Genetics, Level 1 Boundary Court, 55 Little Edward Street, Brisbane, QLD, 4000 Spinal Muscular Atrophy (SMA) is a severe life limiting autosomal recessive condition with a carrier rate of...
  • February 17, 2017
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Sarah Pantaleo1 *, Belinda Chong1, Daniel Flanagan1, Ivan Macciocca 2, Jacob Mathew 3 & Desirée du Sart1 1 Molecular Genetics Laboratory, Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Victoria, Australia 2 Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Victoria, Australia 3 Cardiology Department,...
  • February 17, 2017
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Greg B Peters1, Con Ngo, & Dale Wright. 1 Sydney Genome Diagnostics, Children’s Hospital Westmead, Hawkesbury Road & Hainsworth Street, Westmead, NSW 2145, Australia   Microarray technology has been in routine diagnostic use for more than a decade, and much...
  • February 17, 2017
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Paul De Fazio1, Ling Sun1, Matthew Hunter2, Abhijit Kulkarni1 1 Cytogenetics, Monash Health, Monash Medical Centre, Clayton, Victoria, 3168 2 Monash Genetics, Monash Health, Monash Medical Centre, Clayton, Victoria, 3168   Approximately 15% of all clinically recognized pregnancies result in...
  • February 17, 2017
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