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Qualitative aspects of developmental language impairment relate to language and literacy outcome in adulthoodDevelopmental language disorder is a heterogeneous diagnostic category. Little research has compared the long-term outcomes of children with different...
Research
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
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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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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The diagnosis of autism in a female: could it be Rett syndrome?The aims of this study were to compare the early and subsequent clinical courses of female subjects with Rett syndrome categorised by whether...
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Seizures in Rett syndrome: an overview from a one-year calendar studyInformation on daily seizure occurrence and health service utilization and monthly anti-epileptic drug use was provided on 162 Rett syndrome cases for a...
Research
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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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.
Research
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...
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.