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Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2Overview of all published mutations for the two Kabuki syndrome genes and point out possible mutation hot spots and strategies for molecular genetic testing
Research
Impact of heart disease on maternal, fetal and neonatal outcomes in a low-resource settingOccult maternal heart disease may be responsible for a substantial proportion of adverse pregnancy outcomes in low-resource settings
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Research Note: Adaptive trialsThis Research Note has explored the strengths, risks and potential complexity of adaptive trials
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International experience in the development of patient-derived xenograft models of diffuse intrinsic pontine gliomaThis multi-center study provides valuable information on the success rate of establishing patient-derived pre-clinical models of diffuse intrinsic pontine glioma
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Maternal high fat diet compromises survival and modulates lung development of offspring, and impairs lung function of damsWhile maternal high fat diet compromised litter survival, it also promoted somatic and lung growth (increased lung volume) in the offspring
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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
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Ground zero—the airway epitheliumNew PageThis chapter will discuss the structure of the airway highlighting the now broad number of cell types that comprise it
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A novel, palatable paediatric oral formulation of midazolam: Pharmacokinetics, tolerability, efficacy and safetyWe conclude that the novel chocolate-based formulation of midazolam provides improved tolerability while remaining efficacious
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Predicting respiratory hospital admissions in young people with cerebral palsyMost risk factors for respiratory hospital admissions in young people with cerebral palsy are potentially modifiable
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Expansion of the Human Phenotype Ontology (HPO) knowledge base and resourcesThe Human Phenotype Ontology is a standardized vocabulary of phenotypic abnormalities used by researchers, clinicians, informaticians and electronic health record systems