Kofler, R

CYP11B1 Mutations Causing Non-Classic Adrenal Hyperplasia due to 11 -Hydroxylase Deficiency

Joehrer, K., Geley, S., Strasser-Wozak, E. M. C., Azziz, R., Wollmann, H. A., Schmitt, K., Kofler, R., & White, P. C. (1997) · Human Molecular Genetics

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

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Cancer cell line identification by short tandem repeat profiling: power and limitations

Parson, W., Kirchebner, R., Mühlmann, R., Renner, K., Kofler, A., Schmidt, S., & Kofler, R. (2005) · The FASEB Journal

Forensic and Genetic ResearchMolecular Biology Techniques and Applications

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R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions.

Helmberg, A., Tusie-Luna, M. T., Tabarelli, M., Kofler, R., & White, P. C. (1992) · Molecular Endocrinology

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

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Amino acid substitution R384P in aldosterone synthase causes corticosterone methyloxidase type I deficiency

Geley, S., Jöhrer, K., Peter, M., Denner, K., Bernhardt, R., Sippell, W. G., & Kofler, R. (1995) · The Journal of Clinical Endocrinology & Metabolism

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