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Research

Silver Russel syndrome in an aboriginal patient from Australia

We report a 4-year-old Australian Aboriginal girl who was born at 32 weeks gestation with features strongly suggestive of Silver-Russell syndrome

Research

Reducing harms related to alcohol use in pregnancy – policy and practice recommendations

This issues brief outlines opportunities for change to support reduction of harms related to alcohol use in pregnancy

Research

High concentrations of middle ear antimicrobial peptides and proteins are associated with detection of middle ear pathogens in children with recurrent acute otitis media

Elevated antimicrobial proteins and peptides and cytokines in middle ear effusion are a marker of inflammation and bacterial persistence

Research

Disparities between Aboriginal and non-Aboriginal perinatal mortality rates in Western Australia from 1980 to 2015

This study aimed to examine the pattern of stillbirth and neonatal mortality rate disparities over time in Western Australia

Research

Infant removals: The need to address the over-representation of Aboriginal infants and community concerns of another ‘stolen generation’

The disparity between Aboriginal and non-Aboriginal infant removals needs to be seen as a priority requiring urgent action to prevent further intergenerational trauma

Research

Powered standing wheelchairs promote independence, health and community involvement in adolescents with Duchenne muscular dystrophy

This study used qualitative methods to explore how adolescents with Duchenne muscular dystrophy used a powered wheelchair standing device in their daily lives

Research

Atypical nested 22q11.2 duplications are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance

Our findings contribute to the genotype–phenotype data for atypical nested 22q11.2 duplications, with implications for genetic counseling