TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton

por Burren, Christine P., Caswell, Richard, Castle, Bruce, Welch, C. Ross, Hilliard, Tom N., Smithson, Sarah F., Ellard, Sian
Publicado 2018

Abnormal pro-gly-pro pathway and airway neutrophilia in pediatric cystic fibrosis

por Turnbull, Andrew R., Pyle, Chloe J., Patel, Dhiren F., Jackson, Patricia L., Hilliard, Tom N., Regamey, Nicolas, Tan, Hui-Leng, Brown, Sarah, Thursfield, Rebecca, Short, Christopher, Mc Fie, Megan, Alton, Eric W.F.W., Gaggar, Amit, Blalock, J. Edwin, Lloyd, Clare M., Bush, Andrew, Davies, Jane C., Snelgrove, Robert J.
Publicado 2020

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function

por Xu, Zhiwen, Lo, Wing-Sze, Beck, David B., Schuch, Luise A., Oláhová, Monika, Kopajtich, Robert, Chong, Yeeting E., Alston, Charlotte L., Seidl, Elias, Zhai, Liting, Lau, Ching-Fun, Timchak, Donna, LeDuc, Charles A., Borczuk, Alain C., Teich, Andrew F., Juusola, Jane, Sofeso, Christina, Müller, Christoph, Pierre, Germaine, Hilliard, Tom, Turnpenny, Peter D., Wagner, Matias, Kappler, Matthias, Brasch, Frank, Bouffard, John Paul, Nangle, Leslie A., Yang, Xiang-Lei, Zhang, Mingjie, Taylor, Robert W., Prokisch, Holger, Griese, Matthias, Chung, Wendy K., Schimmel, Paul
Publicado 2018