Search
Research
Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 LocusIn about half of all patients with a suspected monogenic disease, genomic investigations fail to identify the diagnosis. A contributing factor is the difficulty with repetitive regions of the genome, such as those generated by segmental duplications. The ATAD3 locus is one such region, in which recessive deletions and dominant duplications have recently been reported to cause lethal perinatal mitochondrial diseases characterized by pontocerebellar hypoplasia or cardiomyopathy, respectively.
Research
The misnomer of ‘high functioning autism’: Intelligence is an imprecise predictor of functional abilities at diagnosisWe argue that 'high functioning autism' is an inaccurate clinical descriptor when based solely on intelligence quotient demarcations
Research
Analytical bias in the measurement of plasma 25-hydroxyvitamin D concentrations in infantsTo our knowledge, this is the first study to show that the reported 25(OH)D concentration may be influenced by both age and assay type
Research
Acute Rheumatic Fever and Rheumatic Heart DiseaseAcute Rheumatic Fever and Rheumatic Heart Disease is a concise, yet comprehensive, clinical resource highlighting must-know information on rheumatic heart disease and acute rheumatic fever from a global perspective
Research
Topical antiseptics for chronic suppurative otitis mediaThe effectiveness and safety profile of antiseptics in the treatment of chronic suppurative otitis media is uncertain
Research
A method for the generation of large numbers of dendritic cells from CD34+ hematopoietic stem cells from cord bloodNeonatal dendritic cells generated form CD34+ cord blood progenitors have a higher inflammatory potential when exposed to viral than bacterial related stimuli

The mission of the Vaccine Trials Group is to improve the health of the community through immunisation and the prevention of infectious diseases.

An innovative The Kids program is helping to slash waiting times so children can have their ear problems checked within days.

Hip Hop 2 SToP video It didn’t take long for shyness to make way for excitement when a group of children from Dampier Peninsula communities got

Researchers are collaborating with Community Elders to find out how bush tucker and traditional food can improve the health of Aboriginal children.