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Research

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

Research

We argue that 'high functioning autism' is an inaccurate clinical descriptor when based solely on intelligence quotient demarcations

Research

Initial evaluation suggests that QI-Disability is a reliable and valid measure of quality of life across the spectrum of intellectual disability

Research

Here, we explore the history of planetary health and describe its relevance to contemporary healthcare

Research

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

This study explored facilitators and barriers to "uptime" (non-sedentary) activities in Danish girls and women with Rett syndrome

Research

This multi-center study provides valuable information on the success rate of establishing patient-derived pre-clinical models of diffuse intrinsic pontine glioma

Research

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

Research

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

Research

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