Julia Kowalczyk

Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency

Eirini Meimaridou, Julia Kowalczyk, Leonardo Guasti et al. · Nature Genetics · 2012 · 260 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +6

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

Rathi Prasad, Li F. Chan, Claire Hughes et al. · The Journal of Clinical Endocrinology & Metabolism · 2014 · 137 citations · Full text

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

Jürgen Klammt, David Neumann, Evelien Gevers et al. · Nature Communications · 2018 · 114 citations · Full text

Genetic characterisation of a cohort of children clinically labelled as GH or IGF1 insensitive: diagnostic value of serum IGF1 and height at presentation

Helen L. Storr, Leo Dunkel, Julia Kowalczyk et al. · European Journal of Endocrinology · 2014 · 23 citations

A Novel Homozygous Mutation of the <b><i>IGFALS</i></b> Gene in a Female Adolescent: Indirect Evidence for a Contributing Role of the Circulating IGF-I Pool in the Pubertal Growth Spurt

Thekla Poukoulidou, Julia Kowalczyk, Louise Metherell et al. · Hormone Research in Paediatrics · 2014 · 13 citations