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Research
Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two familiesWe report three babies from two families with a severe lethal form of congenital cutis laxa. All three had redundant and doughy-textured skin and two siblings from one family had facial dysmorphism. Echocardiograms showed thickened and poorly contractile hearts, arterial dilatation and tortuosity. Post-mortem examination in two of the babies further revealed widespread ectasia and tortuosity of medium and large sized arteries, myocardial hypertrophy, rib and skull fractures.
Research
ISPAD Clinical Practice Consensus Guidelines 2022: Assessment and management of hypoglycemia in children and adolescents with diabetesTim Jones MBBS DCH FRACP MD Co-head, Diabetes and Obesity Research Co-head, Diabetes and Obesity Research Areas of research expertise: Diabetes
Research
Global distribution of human hookworm species and differences in their morbidity effects: a systematic reviewThe global distribution and morbidity effects for each specific hookworm species is unknown, which prevents implementation of the optimum intervention for local hookworm control.
We interviewed 17 parents with a daughter with Rett syndrome to gain their perspectives on how their daughter communicates and barriers.
PICOBOO (The Platform Trial In COVID-19 Priming and BOOsting) Study and NOVAVAX COVID-19/Influenza Combined Vaccine Study
Parental Experience of Information and Education Processes Following Diagnosis of Their Infant With Cystic Fibrosis Via Newborn Screening. Abstract
News & Events
Top Up PhD ScholarshipsApplications are open for the next round of our Top Up Scholarships for students who are undertaking their research in type 1 diabetes-related fields.
News & Events
Seed Funding GrantsApplications are open for the next round of our Seed Funding Grants for researchers dedicated to type 1 diabetes
News & Events
International Clinical Trials DayTo celebrate International Clinical Trials Day, we are highlighting a couple of a current trials underway at the Children's Diabetes Centre at the Kids Research Institute Australia and Perth Children's Hospital
News & Events
Professor Davis wins Diabetes Australia awardProfessor Liz Davis, Head of Endocrinology and Diabetes at the Perth Children’s Hospital is one of three diabetes leaders to receive the Outstanding Achievement Award from Diabetes Australia.