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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

Diagnosis of asbestos-related lung diseases

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

Research

“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

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

International experience in the development of patient-derived xenograft models of diffuse intrinsic pontine glioma

This multi-center study provides valuable information on the success rate of establishing patient-derived pre-clinical models of diffuse intrinsic pontine glioma

Research

Maternal high fat diet compromises survival and modulates lung development of offspring, and impairs lung function of dams

While maternal high fat diet compromised litter survival, it also promoted somatic and lung growth (increased lung volume) in the offspring

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

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

Adjunctive protein synthesis inhibitor antibiotics for toxin suppression in Staphylococcus aureus infections: a systematic appraisal

A summary of the literature regarding the use of adjunctive protein synthesis inhibitors for toxin suppression in the setting of S. aureus infections is presented

Research

A novel, palatable paediatric oral formulation of midazolam: Pharmacokinetics, tolerability, efficacy and safety

We conclude that the novel chocolate-based formulation of midazolam provides improved tolerability while remaining efficacious