Investigation into the Importance of genes encoding ciliary proteins in congenital heart disease using whole exome sequencing

por Hartill, V, Logan, C, Parry, DA, Szymanska, K, Ashcroft, K, English, K, Prescott, K, Dobbie, A, Barwick, S, Bennett, C, Goodship, J, Sheridan, E, Johnson, C
Publicado 2015

Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in...

por Evans, D.G., Bowers, N., Burkitt-Wright, E., Miles, E., Garg, S., Scott-Kitching, V., Penman-Splitt, M., Dobbie, A., Howard, E., Ealing, J., Vassalo, G., Wallace, A.J., Newman, W., Huson, S.M.
Publicado 2016