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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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Development of a video-based evaluation tool in Rett syndromeThis paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT).
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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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Targeting the effector site with IFN-alphabeta-inducing TLR ligands reactivates tumor-resident CD8 T cell responses to eradicate established solid tumorsEffective antitumor CD8 T cell responses may be activated by directly targeting the innate immune system within tumors.
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Human Papillomavirus vaccination for the prevention of cervical neoplasia: is it appropriate to vaccinate women older than 26?Cervical cancer mortality has been reduced in Australia because of effective screening programs, but there are still about 800 new cases...
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Lessons from the first year of the WAIVE study investigating the protective effect of influenza vaccineInfluenza is major cause of paediatric hospitalisation. Influenza vaccine was offered to all children aged 6-59 months resident in Western Australia in 2008
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Gross Motor Profile in Rett Syndrome as Determined by Video AnalysisThis study used video supplemented by parent report data to describe the gross motor profile in females with Rett syndrome (n=99) and to investigate...
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Reliability of a novel paradigm for determining hemispheric lateralization of visuospatial functionIn most individuals, language production and visuospatial skills are subserved predominantly by the left and right hemispheres, respectively.
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Rare childhood diseases: how should we respond?Paradoxically, rare diseases are common, collectively affecting 6-10% of the population and have a huge impact on patients and families, health services,...
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Receptor mutation is not a common mechanism of naturally occurring glucocorticoid resistance in leukaemia cell linesGlucocorticoids (GCs) are among the most important drugs for the treatment of acute lymphoblastic leukaemia (ALL).