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Umbilical venous blood flow and its measurement in the human fetusIn this review, we evaluate the published methodologies to describe a noninvasive technique for the quantitative assessment of umbilical venous blood flow in...
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Cholesteryl ester transfer protein gene polymorphisms increase the risk of fatty liver in females independent of adiposityEnvironmental factors including excessive caloric intake lead to disordered lipid metabolism and fatty liver disease.
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Early loss of the glucagon response to hypoglycemia in adolescents with type 1 diabetesThe objective was to assess the glucagon response to hypoglycemia and identify influencing factors in patients with type 1 diabetes compared with nondiabetic...
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Age- and height-based prediction bias in spirometry reference equationsPrediction bias in spirometry reference equations can arise from combining equations for different age groups,...
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.
Many girls and women with Rett syndrome experience seizures. We wanted to know if there were any factors that influenced the age when seizures first developed.