M. Welzel

发表

Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1.

B. Karges, B. Kırel, B. Hauffa, 2013, European journal of endocrinology.

Implementation of a Liquid Chromatography Tandem Mass Spectrometry Assay for Eight Adrenal C-21 Steroids and Pediatric Reference Data

P. Holterhus, M. Welzel, F. Riepe, 2013, Hormone Research in Paediatrics.

Principles and clinical applications of liquid chromatography — tandem mass spectrometry for the determination of adrenal and gonadal steroid hormones

P. Holterhus, M. Welzel, F. Riepe, 2011, Journal of endocrinological investigation.

Relationships between 24-hour urinary free cortisol concentrations and metabolic syndrome in obese children.

T. Reinehr, P. Holterhus, M. Welzel, 2014, The Journal of clinical endocrinology and metabolism.

Epigenetic Repression of Androgen Receptor Transcription in Mutation-Negative Androgen Insensitivity Syndrome (AIS Type II)

S. Bens, R. Siebert, H. Stunnenberg, 2018, The Journal of clinical endocrinology and metabolism.

A novel mutation of the StAR gene with congenital adrenal hyperplasia and its association with heterochromia iridis: a case report

F. Schreiner, P. Holterhus, J. Woelfle, 2019, BMC Endocrine Disorders.

The Novel Mutation p.Trp147Arg of the Steroidogenic Acute Regulatory Protein Causes Classic Lipoid Congenital Adrenal Hyperplasia with Adrenal Insufficiency and 46,XY Disorder of Sex Development

J. Grötzinger, A. Topaloğlu, E. Mengen, 2013, Hormone Research in Paediatrics.

Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia.

P. Clayton, H. Dörr, J. Grötzinger, 2008, The Journal of clinical endocrinology and metabolism.

17α-Hydroxylase Deficiency Diagnosed in Early Infancy Caused by a Novel Mutation of the CYP17A1 Gene

R. Schild, J. Grötzinger, S. Heger, 2014, Hormone Research in Paediatrics.

No correlation between androgen receptor CAG and GGN repeat length and the degree of genital virilization in females with 21-hydroxylase deficiency.

H. Krude, G. Binder, H. Dörr, 2010, The Journal of clinical endocrinology and metabolism.

Steroid hormone profiles in prepubertal obese children before and after weight loss.

T. Reinehr, P. Holterhus, M. Welzel, 2013, The Journal of clinical endocrinology and metabolism.

In vivo Investigations of the Effect of Short- and Long-Term Recombinant Growth Hormone Treatment on DNA-Methylation in Humans

S. Bens, R. Siebert, T. Eggermann, 2015, PloS one.

Transcriptional response of peripheral blood mononuclear cells to recombinant human growth hormone in a routine four-days IGF-I generation test.

M. Appari, P. Holterhus, N. Bramswig, 2011, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

The Aldosterone/Renin Ratio as a Diagnostic Tool for the Diagnosis of Primary Hypoaldosteronism in Newborns and Infants

K. Spanaus, M. Lang-Muritano, E. Schoenle, 2015, Hormone Research in Paediatrics.

Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia.

P. Clayton, H. Dörr, J. Grötzinger, 2008, The Journal of clinical endocrinology and metabolism.