A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia

por Flanagan, SE, Vairo, F, Johnson, MB, Caswell, R, Laver, TW, Lango Allen, H, Hussain, K, Ellard, S
Publicado 2017

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing

por Ellard, S., Lango Allen, H., De Franco, E., Flanagan, S. E., Hysenaj, G., Colclough, K., Houghton, J. A. L., Shepherd, M., Hattersley, A. T., Weedon, M. N., Caswell, R.
Publicado 2013