Canlyniadau Chwilio - Julia Kowalczyk
- Dangos 1 - 4 canlyniadau o 4
-
1
-
2
Thioredoxin Reductase 2 (TXNRD2) Mutation Associated With Familial Glucocorticoid Deficiency (FGD) gan Rathi Prasad, Li Chan, Claire Hughes, Juan Pablo Kaski, Julia Kowalczyk, Martin O. Savage, Catherine Peters, Nisha Nathwani, Adrian Clark, Helen L. Storr, Lou Metherell
Cyhoeddwyd 2014Artigo -
3
Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency gan Eirini Meimaridou, Julia Kowalczyk, Leonardo Guasti, Claire Hughes, Florian Wagner, Peter Frommolt, Peter Nürnberg, Nicholas P. Mann, Ritwik Banerjee, Hami Saka, J. Paul Chapple, Peter King, Adrian J. L. Clark, Lou Metherell
Cyhoeddwyd 2012Artigo -
4
Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation gan Jürgen Klammt, David Neumann, Evelien Gevers, Shayne F. Andrew, I. David Schwartz, Denise Rockstroh, Roberto Colombo, Marco A. Sánchez, Doris Vokurková, Julia Kowalczyk, Lou Metherell, Ron G. Rosenfeld, Roland Pfäffle, Mehul Dattani, Andrew Dauber, Vivian Hwa
Cyhoeddwyd 2018Artigo
Offerynnau Chwilio:
Pynciau Perthynol
Biology
Endocrinology
Gene
Genetics
Glucocorticoid
Medicine
Mutation
Oxidative stress
Reactive oxygen species
Adrenal cortex
Antioxidant
Apoptosis
Biochemistry
Cancer research
Cell biology
Chemistry
Gene knockdown
Germline
Germline mutation
Homeostasis
Immune dysregulation
Immune system
Internal medicine
Missense mutation
Mitochondrion
Oxidative phosphorylation
Phenotype
Programmed cell death
STAT protein
STAT3