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Research
ABCA3 lung disease in an ex 27 week preterm infant responsive to systemic glucocorticosteroidsThis is a case of ABCA3 lung disease that demonstrated improvement after systemic glucocorticosteroid administration
Research
DeepCAGE transcriptomics identify HOXD10 as a transcription factor regulating lymphatic endothelial responses to VEGF-CThe role of HOXD10 in the regulation of VEGFR-3 signaling in lymphatic endothelial cells, and in the control of lymphangiogenesis and permeability
Research
Pressurised metered dose inhaler-spacer technique in young children improves with video instructionRepeated video instruction over time improves inhaler technique in young children
Research
Cyberbullying and the role of the law in Australian schools: Views of senior officialsOpinions of employees from the education and legal systems, regarding their perceptions of the role of the law and cyberbullying in Australian schools
Research
Parental perspectives on the communication abilities of their daughters with Rett syndromePerspectives of parents are integral to the assessment of communication abilities and inform communication interventions for girls and women with Rett Syndrome
We hypothesised that MECP2 mutations occur predominantly on the male derived X chromosome.
We wanted to describe the range and variability in the expression of symptoms in girls and women with Rett syndrome.
We compared the symptoms and genetic characteristics of girls with Rett syndrome and both with and without initial diagnosis of autism.
We described the occurrence of scoliosis in Rett syndrome, how it develops and how it is influenced by the individual's age, mutation type, and walking ability.
Twenty-five families of girls who underwent a spinal fusion between 2006-2012 were interviewed to explore the course of their daughter's recovery.