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Research

ART, birth defects and subfertility-what should prospective patients be told?

Clinicians who counsel prospective ART patients about birth defect risk should provide information about the overall risk of having a child with a birth defect

Research

Integrated Analysis of miRNA and mRNA Expression in Childhood Medulloblastoma Compared with Neural Stem Cells

Medulloblastoma (MB) is the most common malignant brain tumor in children and a leading cause of cancer-related mortality and morbidity.

Research

Dysregulation of innate immunity in ulcerative colitis patients who fail anti-tumor necrosis factor therapy

Study the innate immune function in ulcerative colitis patients who fail to respond to anti-tumor necrosis factor therapy

Research

Transforming Life: A Broad View of the Developmental Origins of Health and Disease Concept from an Ecological Justice Perspective

With emerging research involving green space, the microbiome, biodiversity and positive psychology, we discuss ecological justice in the dysbiosphere

Research

Propulsion strategy in the gait of primary school children; the effect of age and speed

Ankle and hip power generation as a propulsion strategy during the late stance/early swing phases of walking and running in typically developing children

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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

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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

On-the-fly selection of cell-specific enhancers, genes, miRNAs and proteins across the human body using SlideBase

SlideBase, a web tool which offers a new way of selecting genes, promoters, enhancers and microRNAs that are preferentially expressed/used in a specified set of cells/tissues

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