Journal club is a long-standing pedagogy within clinical practice and education. While
journal clubs throughout the world traditionally follow an established format, new approaches …

In utero exposure to maternal antibodies targeting the fetal acetylcholine receptor isoform (fAChR)
can impair fetal movement, leading to arthrogryposis multiplex congenita (AMC). Fetal …

Structural maintenance of chromosomes (SMC) complexes are essential for maintaining
chromatin structure and regulating gene expression. Two the three known SMC complexes, …

Communicating the diagnosis of Down syndrome (DS) to parents in a kind and sensitive
manner is essential. The aim of our study was to evaluate parental experience of this discussion …

The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD)
Page 1 The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (…

OBJECTIVE Genetic defects in human pericentrin (PCNT), encoding the centrosomal protein
pericentrin, cause a form of osteodysplastic primordial dwarfism that is sometimes reported …

Our study had two objectives: (1) to review ante- and post-mortem diagnoses and assign a
Goldman error classification and (2) establish autopsy rates within our centre. We performed …

This was a retrospective case-control study over 14 years comparing characteristics of
neonates who developed E.coli bacteraemia with matched infant controls whose mothers were …

Genetic diagnosis of inherited metabolic disease is conventionally achieved through
syndrome recognition and targeted gene sequencing, but many patients receive no specific …

Distinct tissue-specific mechanisms mediate insulin action in fasting and postprandial states.
Previous genetic studies have largely focused on insulin resistance in the fasting state, …