Investigation unit
Service
Commonwealth Scientific and Industrial Research Organisation
Canberra, AustraliaPublications in collaboration with researchers from Commonwealth Scientific and Industrial Research Organisation (5)
2023
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Risks of Ventricular Arrhythmia and Heart Failure in Carriers of RBM20 Variants
Circulation: Genomic and Precision Medicine, Vol. 16, Núm. 5, pp. 434-441
2021
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Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
Autophagy, Vol. 17, Núm. 1, pp. 1-382
2015
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Inter-laboratory evaluation of instrument platforms and experimental workflows for quantitative accuracy and reproducibility assessment
EuPA Open Proteomics, Vol. 8, pp. 6-15
2013
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Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
Neurogenetics, Vol. 14, Núm. 1, pp. 11-22
2010
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How to catch all those mutations-the report of the third human variome project meeting, UNESCO Paris, May 2010
Human Mutation, Vol. 31, Núm. 12, pp. 1374-1381