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Multinodular goiter in children: An important pointer to a germline DICER1 mutationThis paper is a clinical report of a boy presenting with a kidney cyst. Family history and genetic analysis revealed the family had a mutation in the DICER1...
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Human active X-specific DNA methylation events showing stability across time and tissuesThe phenomenon of X chromosome inactivation in female mammals is well characterised and remains the archetypal example of dosage compensation via monoallelic...
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Comment on "Drug discovery: Turning the titanic"We propose that the molecular and cellular events that govern a resolving, rather than an evolving, disease may reveal new druggable pathways.
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Umbilical Cord Blood Testosterone and Childhood Internalizing and Externalizing Behavior: A Prospective StudyAntenatal testosterone exposure influences fetal neurodevelopment and gender-role behavior in postnatal life and may contribute to differences in...
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Group A Streptococcal Diseases and Their Global BurdenWe review GAS transmission characteristics and prevention strategies, historical and geographical trends and report on the estimated global burden disease...
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Rheumatic Fever Follow-Up Study (RhFFUS) protocol: A cohort study investigating the significance of minorIn Australia, rheumatic heart disease (RHD) is almost exclusively restricted to Aboriginal Australian and Torres Strait Islander people with children being...
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Androgen concentrations in umbilical cord blood and their association with maternal, fetal and obstetric factorsThe aim of this study was to measure umbilical blood androgen concentrations in a birth cohort using a highly specific liquid chromatography-tandem mass...
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Premature to conclude no genetic basis to the association between smoking and major depressive disorderWe analyzed two large-scale surveys, and found high rates of smoking in people with mood disorders and both with and without substance dependence disorders.
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The future of acute rheumatic fever and rheumatic heart disease in AustraliaGlobally, ARF and RHD cause more than a quarter of a million deaths and substantial disability each year.
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Intellectual disability and other neuropsychiatric outcomes in high-risk children of mothers with schizophrenia, bipolar disorder and unipolar major depressionWe examined risk of intellectual disability and other neuropsychiatric outcomes in children of mothers with and without schizophrenia, bipolar or depression.