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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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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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Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) studyThis genome-wide association study (GWAS) utilises data from the Western Australian Pregnancy Cohort (Raine) Study for 25-hydroxyvitamin D (25(OH)D) levels...
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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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Contact with the juvenile justice system in children treated with stimulant medication for attention deficit hyperactivity disorderWe aimed to investigate juvenile justice encounters in children with and without ADHD.
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EAACI food allergy and anaphylaxis guidelines: diagnosis and management of food allergyFood allergy can have significant effects on morbidity and quality of life and can be costly in terms of medical visits and treatments.
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Waning vaccine immunity in teenagers primed with whole cell and acellular pertussis vaccine: Recent epidemiologyThe recent epidemics of pertussis (whooping cough) in parts of the USA and Australia have led to the largest numbers of annual cases reported in over half a...
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Early infant feeding and adiposity risk: from infancy to adulthoodIn our study, we aimed to examine early infant feeding and adiposity risk in a longitudinal cohort from birth to young adulthood using new as well as...