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Our vision - HAPPY HEALTHY KIDS
This study is aiming to investigate how sun exposure and time outside impacts the health of your child’s eye and eye growth, over a period of rapid growth in their lives.
Minderoo Foundation and The Kids join forces to give children the best possible start.
Once we’ve explored what it looks like to be an effective cyber leader, we can then begin to think about the sort of impact we want to make. Without
Our vision: lifelong flourishing for children and their families
For this study, we examined how Rett syndrome characteristics can be affected by X-inactivation for 2 of the common types of mutation - p.R168X and p.T158M.
X linked hypophosphataemia (XLH) is a systemic, chronic condition that significantly impairs quality of life. In XLH, a phosphate regulating endopeptidase homologue X-linked (PHEX) gene mutation leads to excess fibroblast growth factor 23 (FGF23), causing hypophosphataemia and subsequent rickets, lower limb deformity, pain and other sequelae, however there are likely other non-FGF23 mediated mechanisms contributing to disease
Overview of all published mutations for the two Kabuki syndrome genes and point out possible mutation hot spots and strategies for molecular genetic testing
In T-cell acute lymphoblastic leukemia (T-ALL) cytogenetic alterations juxtapose the LIM-domain-only-2 gene (LMO2) with T-cell receptor loci.
X-linked hypophosphatemia (XLH) is a rare, X-linked dominant condition with a high burden of both physical and psychosocial disease. This study aimed to describe the experience and burden of disease for children and adults living with XLH in Australia by inviting affected individuals and their carers to complete an online questionnaire. Of the 46 responses, half were completed by a person with XLH, and half by carers. Thirty percent were male, 33% were aged less than 18 yr.