Concepedia

Julia Kowalczyk

JK

Statistics

Publications

5

Citations

558

H-Index

5

Active since

2012

Affiliations

Queen Mary University of London(Current)

William Harvey Research Institute

University College London

Luton and Dunstable Hospital

Julia Kowalczyk is an author at Queen Mary University of London specializing in medical genetics, human genetics, and genetics.

Publications per year

2012–2018

5

Publications

5

Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency

Eirini Meimaridou, Julia Kowalczyk, Leonardo Guasti et al. · Nature Genetics · 2012 · 264 citations

, , +10

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 · 141 citations · Full text

, , +17

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 · 117 citations · Full text

, , +15

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

, , +17

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

, , +17

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