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Research

Calcium and Vitamin D for obesity: review of randomized controlled trials

Obesity often coexists with low calcium intake and vitamin D insufficiency.

Research

Integrated analysis of miRNA and mRNA expression in childhood Medulloblastoma

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

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.

MECP2 duplication syndrome (MDBase)

MECP2 duplication syndrome is a rare disorder neurodevelopmental disorder that, unlike Rett syndrome, mostly affects boys.

Research snapshots

Our research covers a broad range of areas from the influence of mutation type on health outcomes to factors impacting on the lives of familes.

Altered attainment of developmental milestones

Regression, including the loss of previously learned skills, such as hand function and communication skills, is one of the most suggestive features of Rett synd

Validating the Rett Syndrome Gross Motor Scale

Our study investigated the quality of measurements obtained using the Rett Syndrome Gross Motor Scale.

Early determinants of fractures in Rett syndrome

We wanted to compare the frequency of fracture episodes, and factors associated with a fracture, in females with Rett syndrome, compared to general population.

Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: a cohort study

Our study investigated the impacts of spinal fusion on survival and the risk of developing respiratory infections in females with Rett syndrome.

Impact of scoliosis surgery on daily living

We wanted to examine the effects of spinal fusion surgery to treat scoliosis on the functional abilities of girls and women with Rett syndrome.