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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

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

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

Pain after discharge following head and neck surgery in children

Adenotonsillectomy patients represent the biggest challenge in postoperative pain management of the head and neck surgeries evaluated

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

Research

Feasibility of a commercial smartphone application for dietary assessment in epidemiological research and comparison with 24-h dietary recalls

Our study tested the relative validity of a smart phone app for uses as an epidemiological dietary assessment tool, compared with a standard assessment method.

Research

Orthopaedic issues in Rett Syndrome

This chapter reviews the prevalence, characteristics, and clinical management of orthopedic problems in RTT.