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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

Community Development Coordinator Role Consultation: Consultation Report

This report will outline the theory and evidence base for Community Development and Community Engagement, report on consultation activities and findings

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

Research

Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods

Existing quality of life scales for children in the general population or with other disabilities did not capture the QOL of children with Rett syndrome

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

Australian Aboriginal children with otitis media have reduced antibody titers to specific nontypeable Haemophilus influenzae vaccine antigens

decreased serum IgG responses to NTHi outer membrane proteins may contribute to the development of chronic and severe OM in Australian Aboriginal children