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Research

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

There is a critical need for the field to develop and implement strategies to understand the mechanisms underlying all rare diseases and translate these to clinical care

Research

Ground zero—the airway epitheliumNew Page

This chapter will discuss the structure of the airway highlighting the now broad number of cell types that comprise it

Research

A novel, palatable paediatric oral formulation of midazolam: Pharmacokinetics, tolerability, efficacy and safety

We conclude that the novel chocolate-based formulation of midazolam provides improved tolerability while remaining efficacious

Research

Varicella vaccine effectiveness over 10 years in Australia; moderate protection from 1-dose program

Although Australia's program has impacted on the burden of varicella disease, single dose Vaccine Effectiveness against varicella hospitalisation is only moderate

Research

Diagnosis of asbestos-related lung diseases

Consideration of the future for asbestos-related lung disease includes screening those at highest risk

Research

Predicting respiratory hospital admissions in young people with cerebral palsy

Most risk factors for respiratory hospital admissions in young people with cerebral palsy are potentially modifiable

Research

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

The Human Phenotype Ontology is a standardized vocabulary of phenotypic abnormalities used by researchers, clinicians, informaticians and electronic health record systems

Research

“We are in this together”: Experiences of relationship satisfaction in couples raising a child with autism spectrum disorder

Couples can be supported in these key areas to strengthen their relationship to serve as a source of resilience for families with a child with ASD

Research

Adjunctive protein synthesis inhibitor antibiotics for toxin suppression in Staphylococcus aureus infections: a systematic appraisal

A summary of the literature regarding the use of adjunctive protein synthesis inhibitors for toxin suppression in the setting of S. aureus infections is presented