2020 ePoster – Genetics

A MALLETT1,2,3, P KEAREY1,4, A CAMERON1,4, H HEALY1,2,4, C DENARO1,5, M THOMAS6, V LEE7,8, M FULLER9, W HOY1,4 1The University of Queensland, Brisbane, Australia, 2Kidney Health Service, Royal Brisbane And Women’s Hospital, Brisbane, Australia, 3The KidGen Collaborative, Australian Genomics Health...
R JR LARRAZABAL1, H HENRISON CHIU2 1Department of Medicine – Philippine General Hospital, Manila, Philippines, 2Division of Endocrinology, Diabetes, and Metabolism – Philippine General Hospital, Manila, Philippines Background: Tuberous Sclerosis Complex (TSC) is an autosomal dominant disorder with a prevalence of...
A KANSAL1, P KERR2,3, A MALLETT6,7,12, C QUINLAN4,8,12, Z STARK4,5,6,12, B MCCLAREN4,6,9, S BEST6,10, K JAYASINGHE2,3,4,12 1Eastern Health, Melbourne, Australia, 2Monash Health, Melbourne, Australia, 3Monash University, Melbourne, Australia, 4Murdoch Children’s Research Institute, Melbourne, Australia, 5Victorian Clinical Genetics Services, Melbourne, Australia,...
A FOTHERINGHAM1,2,3, L BALMER4,5, Q NGUYEN4, R WHIDDETT1,3, X-M CHEN6, C POLLOCK6, G MORAHAN4, J FORBES1,2,3 1Mater Research Institute-The University of Queensland, TRI, Brisbane, Australia, 2Faculty of Medicine, The University of Queensland, Brisbane, Australia, 3Translational Research Institute , Brisbane, Australia,...
E WILKINS1,2, C QUINLAN3, A MALLETT4,  Z STARK1,2 1Victorian Clinical Genetics Services, Parkville, Australia, 2Murdoch Children’s Research Institute, Parkville, Australia, 3The Royal Children’s Hospital, Parkville, Australia, 4Royal Brisbane and Women’s Hospital, Herston, Australia Aim and Background: Multidisciplinary renal genetics clinics (RGC)...
M SUET YING NG1,2, E MALACOVA3, C HURST3, A J MALLETT1,2 1Kidney Health Service, Royal Brisbane and Women’s Hospital, Brisbane, Australia, 2Faculty of Medicine and Institute for Molecular Bioscience, The University of Queensland, Brisbane, Australia, 3QIMR Berghofer Medical Research Institute,...
S JAHAN1, J BREALEY2, J NOLAN2, T COATES1 1Royal Adelaide Hospital, Adelaide, Australia, 2Anatomical Pathology, Adelaide, Australia Background: TREX1 (Three Prime Repair Exonuclease 1) is a protein coding gene associated with retinal vasculopathy with cerebral leukoencephalopathy (RVCL) with no known treatment...
W E HOY1,2, S JADHAO3, R THOMSON4, J MATHEWS5, S FOOTE6, J SAVIGE7, B MCMORRAN8, S H NAGARAJ3 1Faculty of Medicine, The University Of Queensland, Brisbane, Australia, 2NHMRC CKD.CRE and CKD.QLD, Brisbane, Australia, 3Faculty of Health, School of Biomedical Sciences,...
M THOMAS1, P H FRANCA GOIS2, B E BUTCHER3,4, M TA5, G VAN WYK5,6 1Department of Nephrology, Royal Perth Hospital, Perth, Australia, 2Department of Nephrology, Royal Brisbane And Women’s Hospital, Brisbane, Australia, 3WriteSource Medical Pty Ltd, Lane Cove, Australia, 4University...
T A FORBES1,2,3, C D’ARCY1,2, P BLOMBERY3,4, D EFRON1,2,3, E WILKINS1,5, T COLE1,2, S L KHAW1,2,3, C QUINLAN1,2,3, S M WHITE2,3,5 1Murdoch Children’s Research Institute, Parkville, Australia, 2Royal Children’s Hospital, Parkville, Australia, 3University of Melbourne, Parkville, Australia, 4Peter MacCallum Cancer...
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