Pauline Terhal

Mechanisms of postischemic cardiac death and protection following myocardial injury

Theranostic Fluorescent Probes

TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility

X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face