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Research

Phase 2 of CATALISE: a multinational and multidisciplinary Delphi consensus study of problems with language development: Terminology

Lack of agreement about criteria and terminology for children's language problems affects access to services as well as hindering research and practice.

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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 disorders

This 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 syndrome

This 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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Germ-line and somatic DICER1 mutations in pineoblastoma

This study suggests that germ-line DICER1 mutations make a clinically significant contribution to PinB, establishing DICER1 as an important susceptibility...

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The correlation between reading and mathematics ability at age twelve has a substantial genetic component

Dissecting 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 approach

This paper profiles the functional pattern of DNA variants found at a higher rate in patients with autism spectrum disorder (ASD), X-linked intellectual...

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Epigenome-wide association study reveals longitudinally stable DNA methylation differences in CD4+ T cells from children with IgE-mediated food allergy

Food allergy is mediated by a combination of genetic and environmental risk factors, potentially mediated by epigenetic mechanisms.

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Waning vaccine immunity in teenagers primed with whole cell and acellular pertussis vaccine: Recent epidemiology

The 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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Assessment and management of hypoglycemia in children and adolescents with diabetes

This paper provides clinical practice guidelines for treating low blood sugar in children and adolescents with Type 1 diabetes.