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Research

C1 CAGE detects transcription start sites and enhancer activity at single-cell resolution.

We introduce C1 CAGE, a method for the detection of transcript 5'-ends with an original sample multiplexing strategy in the C1TM microfluidic system

Research

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

There is a critical need for the field to develop and implement strategies to understand the mechanisms underlying all rare diseases and translate these to clinical care

Research

Ground zero—the airway epitheliumNew Page

This chapter will discuss the structure of the airway highlighting the now broad number of cell types that comprise it

Research

Varicella vaccine effectiveness over 10 years in Australia; moderate protection from 1-dose program

Although Australia's program has impacted on the burden of varicella disease, single dose Vaccine Effectiveness against varicella hospitalisation is only moderate

Research

Early childhood education and child development in four countries in East Asia and the Pacific

Results indicate that early childhood education is beneficial for children's early development

Research

Diagnosis of asbestos-related lung diseases

Consideration of the future for asbestos-related lung disease includes screening those at highest risk

Research

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

The Human Phenotype Ontology is a standardized vocabulary of phenotypic abnormalities used by researchers, clinicians, informaticians and electronic health record systems

Research

The impact of within and between role experiences on role balance outcomes for working Sandwich Generation Women

Women combining paid employment with dual caring responsibilities for children and aging parents, experience both benefits and costs

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“We are in this together”: Experiences of relationship satisfaction in couples raising a child with autism spectrum disorder

Couples can be supported in these key areas to strengthen their relationship to serve as a source of resilience for families with a child with ASD

Research

Building the repertoire of measures of walking in Rett syndrome

This study aimed to determine measurement properties of a modified 2MWT and a modified Rett syndrome-specific FMS-RS in Rett syndrome.