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Showing results for "clinical trials"
In clinical genetics, establishing an accurate nosology requires analysis of variations in both aetiology and the resulting phenotypes. At the phenotypic level, recognising typical facial gestalts has long supported clinical and molecular diagnosis; however, the objective analysis of facial phenotypic variation remains underdeveloped.
We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Clinical and genetic data from affected individuals were collected through Facebook-based family support group, GeneMatcher, and our network of collaborators.
To determine the proportion of first status epilepticus cases that are vaccine-proximate and compare clinical outcomes to non-vaccine-proximate cases.
The aim of this study was to describe clinical characteristics, outcomes and causes of microcephaly in children whose condition was identified within the first year of life.
Clinical trial designs are typically narrowly focused on error control in hypothesis testing, but this approach is inadequate in many contexts, particularly when a decision maker intends to, or must, consider multiple relevant clinical and health economic outcomes under uncertainty. Value-of-information (VoI) metrics can be used to estimate the monetary value of data collection to the decision maker.
Idiopathic Pulmonary Fibrosis (IPF) is a progressive lung disease in which circulatory biomarkers has the potential for guiding management in clinical practice. We assessed the prognostic role of serum biomarkers in three independent IPF cohorts, the Australian IPF Registry (AIPFR), Trent Lung Fibrosis (TLF) and Prospective Observation of Fibrosis in the Lung Clinical Endpoints (PROFILE).
Paediatric Physiotherapist
Co-director of Children’s Diabetes Centre
The objective was to investigate the feasibility of prospectively validating multiple clinical prediction scores for pediatric appendicitis in an Australian pediatric emergency department.
Objective: To assess the demographic, social, and clinical characteristics of young Australians who die by suicide.