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Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation familiesEpilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked disorder affecting heterozygous females and sparing hemizygous males.
Research
Lung function testing in preschool-aged children with cystic fibrosis in the clinical settingThis study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations.
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Lentivirus-mediated gene transfer of interleukin 10 to the ovine and human corneaGene transfer to a donor cornea ex vivo can modulate corneal graft failure in experimental animal models. We compared a lentiviral vector (LV) carrying...
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Hepatic iron loading in mice increases cholesterol biosynthesisIron and cholesterol are both essential metabolites in mammalian systems, and too much or too little of either can have serious clinical consequences
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The factor structure of the eating disorder examination in clinical and community samplesWe investigated whether children who are heavier at birth have an increased risk of type 1 diabetes
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Breastfeeding duration and academic achievement at ten yearsThe aim of this study was to examine the relationship between duration of breastfeeding and educational outcomes.
The Airway Epithelial Research Team is investigating the role of the epithelium in the development of airway diseases including asthma, cystic fibrosis and lung transplant rejection.
Research
Early progressive encephalopathy in boys and MECP2 mutationsMECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...
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NTNG1 mutations are a rare cause of Rett syndromeA translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).
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Effect of blood glucose levels on the amount of glucose needed to maintain stable blood glucose levels during and after moderate intensity exercise in young people with type 1 diabetesDetermining if hyperglycaemia prior to and during exercise affects the amount of carbohydrate required to maintain stable glucose levels during/after exercise