Monogenic diabetes (caused by a change in a single gene) affects around 3.6 per cent of those diagnosed below the age of 25 years. Genetic testing matters as ensuring the correct diagnosis impacts on ...

The objective of the present study was to analyse the mode of inheritance for dilated cardiomyopathy (DCM) in Irish wolfhounds using regressive logistic models by testing for mechanisms of genetic ...

Significantly higher frequencies of renal calculi were found among the 625 parents and sibs of 106 subjects prone to calcium oxalate stone formation as compared with 576 corresponding relatives of ...

Although rare diseases are individually rare, around the globe nearly 400 million people suffer from approximately 7,000 different rare diseases. Approximately 80% of all rare diseases are genetic in ...