Thioredoxin Reductase 2 (TXNRD2) Mutation Associated With Familial Glucocorticoid Deficiency (FGD)

gan Prasad, Rathi, Chan, Li F., Hughes, Claire R., Kaski, Juan P., Kowalczyk, Julia C., Savage, Martin O., Peters, Catherine J., Nathwani, Nisha, Clark, Adrian J. L., Storr, Helen L., Metherell, Louise A.
Cyhoeddwyd 2014

Mutations in Nicotinamide Nucleotide Transhydrogenase (NNT) cause familial glucocorticoid deficiency

gan Meimaridou, Eirini, Kowalczyk, Julia, Guasti, Leonardo, Hughes, Claire R., Wagner, Florian, Frommolt, Peter, Nürnberg, Peter, Mann, Nicholas P., Banerjee, Ritwik, Saka, H. Nurcin, Chapple, J. Paul, King, Peter J., Clark, Adrian J.L., Metherell, Louise A.
Cyhoeddwyd 2012

Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation

gan Klammt, Jürgen, Neumann, David, Gevers, Evelien F., Andrew, Shayne F., Schwartz, I. David, Rockstroh, Denise, Colombo, Roberto, Sanchez, Marco A., Vokurkova, Doris, Kowalczyk, Julia, Metherell, Louise A., Rosenfeld, Ron G., Pfäffle, Roland, Dattani, Mehul T., Dauber, Andrew, Hwa, Vivian
Cyhoeddwyd yn Nat Commun (2018)