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The common BDNF polymorphism may be a modifier of disease severity in Rett syndromeRett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2).
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Investigating genotype-phenotype relationships in Rett syndrome using an international data setThis study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in...
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Low-moderate prenatal alcohol exposure and risk to child behavioural development: a prospective cohort studyTo examine the association of fetal alcohol exposure during pregnancy with child and adolescent behavioural development.
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Association of pre-pregnancy weight and birth defectsAssociation of pre-pregnancy weight, birth defects
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Long-term effects of aluminium dust inhalationWe investigated the association between aluminium dust inhalation and cardiovascular, cerebrovascular and Alzheimer's diseases in a cohort of Australian male...
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Assessment of early bronchiectasis in young children with cystic fibrosis is dependent on lung volumeThe aim of this study was to determine whether assessment of early CT scan-detected bronchiectasis in young children with cystic fibrosis (CF) depends on...
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A Genome-Wide Search for Type 2 Diabetes Susceptibility Genes in an Extended Arab FamilyWe performed a discovery GWAS in an extended UAE family (N = 178; 66 diabetic; 112 healthy) genotyped on the Illumina Human 660 Quad Beadchip, with...
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No dose-dependent increase in fracture risk after long-term exposure to high doses of retinol or beta-caroteneThis intervention study found no increase in fracture risk among 2,322 adults who took a controlled, high-dose retinol supplement (25,000 IU retinyl...
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Role of public and private funding in the rising caesarean section rate: A cohort studyOur results indicate that an increase in the prelabour caesarean delivery rate for private patients in private hospitals has been driving the increase in the...
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Parental smoking and risk of childhood brain tumorsChildhood brain tumors (CBT) are the leading cause of cancer death in children, yet their etiology remains largely unknown.