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

Por 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.
Publicado em 2014

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

Por 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.
Publicado em 2012

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

Por 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
Publicado no Nat Commun (2018)