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Research

FANTOM5 CAGE profiles of human and mouse samples

Resulting data represents the consequence of transcriptional regulation in each analyzed state of mammalian cells.

Research

Pain after discharge following head and neck surgery in children

Adenotonsillectomy patients represent the biggest challenge in postoperative pain management of the head and neck surgeries evaluated

Research

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

Overview of all published mutations for the two Kabuki syndrome genes and point out possible mutation hot spots and strategies for molecular genetic testing

Research

Transforming Life: A Broad View of the Developmental Origins of Health and Disease Concept from an Ecological Justice Perspective

With emerging research involving green space, the microbiome, biodiversity and positive psychology, we discuss ecological justice in the dysbiosphere

Research

A Relationship Between Early Language Skills and Adult Autistic-Like Traits: Evidence from a Longitudinal Population-Based Study

This is the first study to show an association between early language ability and autistic-like traits in adulthood

Research

Propulsion strategy in the gait of primary school children; the effect of age and speed

Ankle and hip power generation as a propulsion strategy during the late stance/early swing phases of walking and running in typically developing children

Research

On-the-fly selection of cell-specific enhancers, genes, miRNAs and proteins across the human body using SlideBase

SlideBase, a web tool which offers a new way of selecting genes, promoters, enhancers and microRNAs that are preferentially expressed/used in a specified set of cells/tissues

Research

Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study

Our aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type and examine their impact and management from a caregiver perspective.