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Research

Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder

Epilepsy is pervasive but not mandatory for the CDKL5 disorder, and genotype and functional abilities were related to seizure frequency

Research

Quantification of walking-based physical activity and sedentary time in individuals with Rett syndrome

Quantifying individual's with Rett syndrome with the ability to walk, walking based activities and sedentary time, analyzing a variety of influences.

Research

Key findings from the second Australian Child and Adolescent Survey of Mental Health and Wellbeing

The prevalence of mental disorders in children and adolescents in Australia, and the severity and impact of those mental disorders

Research

CATALISE: A multinational and multidisciplinary Delphi consensus study. Identifying language impairments in children

Delayed or impaired language development is a common developmental concern, yet there is little agreement about the criteria used to identify and classify...

Research

Reference values for spirometry and their use in test interpretation: A Position Statement from the Australian and New Zealand Society of Respiratory Science

The ANZSRS recommends the adoption of the Global Lung Function Initiative (GLI) 2012 spirometry reference values throughout Australia and New Zealand

Research

FANTOM5 CAGE profiles of human and mouse samples

Resulting data represents the consequence of transcriptional regulation in each analyzed state of mammalian cells.

Research

Health of adolescent refugees resettling in high-income countries

Early identification and management of the healthcare issues faced by adolescent refugees resettling in countries are key to improving long-term health outcomes

Research

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

Overview of all published mutations for the two Kabuki syndrome genes and point out possible mutation hot spots and strategies for molecular genetic testing