Publications by authors named "Peter Diakumis"

5Publications

Genetic Analysis of Patients Who Experienced Awareness with Recall while under General Anesthesia.

Anesthesiology 2019 11;131(5):974-982

From Department of Anaesthesiology, Waikato Clinical Campus, University of Auckland, Hamilton, New Zealand (J.W.S.) Department of Anaesthesia and Pain Management, Royal Melbourne Hospital, Melbourne, Australia (K.L.) Centre for Integrated Critical Care (K.L.) Department of Pharmacology and Therapeutics (K.L.) Department of Paediatrics (A.J.D., D.J.A., P.J.L.) Department of Medical Biology (M.B.), The University of Melbourne, Melbourne, Australia Department of Epidemiology and Preventive Medicine, Monash University, Melbourne, Australia (K.L.) Department of Anaesthesia, Royal Children's Hospital, Melbourne, Australia (A.J.D.) Murdoch Children's Research Institute, Melbourne, Australia (A.J.D., D.J.A.) Royal Children's Hospital, Melbourne, Australia (D.J.A.) Population Health and Immunity Division (P.D., M.B.) Bioinformatics Division (V.L.), The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Melbourne, Australia (P.J.L.).

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http://dx.doi.org/10.1097/ALN.0000000000002877DOI Listing
November 2019

Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of .

Ann Clin Transl Neurol 2017 12 7;4(12):859-864. Epub 2017 Nov 7.

Bruce Lefroy Centre for Genetic Health Research Murdoch Childrens Research Institute Parkville Victoria 3052 Australia.

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http://dx.doi.org/10.1002/acn3.487DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740235PMC
December 2017

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014