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Research

Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus

In 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 diagnosis

We 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 infants

To 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 Disease

Acute 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 media

The 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 blood

Neonatal dendritic cells generated form CD34+ cord blood progenitors have a higher inflammatory potential when exposed to viral than bacterial related stimuli

Vaccine Trials Group

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

Djaalinj Waakinj leads to better hearing – and happier kids

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

Pandemic pivot keeps vital skin program alive

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

How traditional bush tucker could help boost Aboriginal children’s vitamin D

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