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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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Environmental, personal, and genetic determinants of response to vitamin D supplementation in older adultsWe aimed to examine genetic and nongenetic determinants of change in serum 25-hydroxyvitamin D (25(OH)D) after supplementation.
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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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Keyhole limpet haemocyanin - A model antigen for human immunotoxicological studiesThis report systematically reviews the human clinical studies that have used trans-cutaneous KLH immunization for assessment of the influence of various...
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The prevention, diagnosis and management of central venous line infections in childrenWith advancing paediatric healthcare, the use of central venous lines has become a fundamental part of management of neonates and children.
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Twenty years of surveillance in Rett syndrome: what does this tell us?This study aimed to describe overall survival and adult health in those with Rett syndrome.
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Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disordersThis study investigated the capacity of three accelerometer-type devices to measure walking activity in Rett syndrome
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Community participation for girls and women living with Rett syndromeThis paper aimed to describe the relationships between level of impairment and participation in community activities for girls and women with Rett syndrome.
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The correlation between reading and mathematics ability at age twelve has a substantial genetic componentDissecting how genetic and environmental influences impact on learning is helpful for maximizing numeracy and literacy.
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Towards a molecular characterization of autism spectrum disorders: An exome sequencing and systems approachThis paper profiles the functional pattern of DNA variants found at a higher rate in patients with autism spectrum disorder (ASD), X-linked intellectual...