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Caudal dysgenesis and sirenomelia-single centre experience suggests common pathogenic basisAbnormally formed lower limbs with varying degrees of fusion are the major feature of sirenomelia whereas maldeveloped lower limbs without fusion are found in a
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Confirmatory factor analysis of the Eating Disorder Examination-Questionnaire (EDE-Q)To compare the goodness-of-fit of five models of Eating Disorder Examination-Questionnaire (EDE-Q) data, in clinical and community samples.
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Epidemiology of the cerebral palsiesHalf of the most severe cases of cerebral palsy (CP) survive to adulthood, but because this longevity is relatively recent, there is no empirical experience of
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Inequalities in healthcare provision for people with severe mental illnessThere are many factors that contribute to the poor physical health of people with severe mental illness (SMI), including lifestyle factors and medication side e
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Respiratory impedance and bronchodilator response in healthy Italian preschool childrenTo define normal values for respiratory resistance (R(rs)) and reactance (X(rs)) and bronchodilator response (BDR) in a population of healthy Italian preschool
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Adverse events following botulinum toxin type A treatment in children with cerebral palsyAdverse events following botulinum toxin type A treatment in children with cerebral palsy
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