Objective To determine whether any children in the UK had variant Creutzfeldt-Jakob disease (vCJD). Design This active ...

Aicardi-Goutières syndrome (AGS) is a rare genetic disorder classified among type I interferonopathies. Current pharmacological management of AGS is symptomatic and supportive, with recent clinical ...

Bartter syndrome is a group of similar rare conditions that affect the kidneys. It's genetic, meaning it's caused by a problem with a gene. If you have this condition, too much salt and calcium ...

Peer ReviewDownload a summary of the editorial decision process including editorial decision letters, reviewer comments and author responses to feedback. Type I Interferonopathy-associated variants of ...

General adaptation syndrome (GAS) describes the three-stage response your body goes through when under stress: alarm reaction (also called fight-or-flight), resistance (where your body recovers), and ...

The Western Australian preterm birth prevention initiative: a whole of state singleton pregnancy cohort study showing the need to embrace alternative models of care for Aboriginal women.

1 Program in Developmental Biology, the Hospital for Sick Children, Toronto, Canada 2 Western Sydney Genetics Program, the Royal Alexandra Hospital for Children, Sydney, and Discipline of Paediatrics ...

The genetic basis for hypermobile Ehlers-Danlos syndrome (hEDS) remains unknown. Methods Whole exome sequencing (WES) was undertaken on 174 EDS patients recruited from a national diagnostic service ...