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Research

Genetic polymorphisms and childhood acute lymphoblastic leukemia: GWAS of the ESCALE study (SFCE)

Acute lymphoblastic leukemia (ALL) accounts for approximately 80% of the acute leukemia (AL) overall cases per year in France. We report the results of a...

Research

Cholesteryl ester transfer protein gene polymorphisms increase the risk of fatty liver in females independent of adiposity

Environmental factors including excessive caloric intake lead to disordered lipid metabolism and fatty liver disease.

Research

National Mental Health Survey of Doctors and Medical Students

The National Mental Health Survey of Doctors and Medical Students was conducted with the aims of understanding issues associated with the mental health of...

Research

Trough concentrations of vancomycin: Adult therapeutic targets are not appropriate for Children

Despite the need for effective vancomycin therapy, there are few data guiding vancomycin monitoring in children. We reviewed retrospectively vancomycin use...

Research

Umbilical venous blood flow and its measurement in the human fetus

In this review, we evaluate the published methodologies to describe a noninvasive technique for the quantitative assessment of umbilical venous blood flow in...

Genocide in the Wildflower State Screening & Panel discussion

A powerful screening of truth telling that captures the stories of the Western Australia Stolen Generation.

Parental origin of mutations

We hypothesised that MECP2 mutations occur predominantly on the male derived X chromosome.

The range of expression of symptoms in girls and women with Rett syndrome

We wanted to describe the range and variability in the expression of symptoms in girls and women with Rett syndrome.

The diagnosis of autism in a female: could it be Rett syndrome?

We compared the symptoms and genetic characteristics of girls with Rett syndrome and both with and without initial diagnosis of autism.

The Natural History of Scoliosis in Females with Rett Syndrome

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.