Katrin Koehler

Dresden, SN, Germany

Last Updated: 09/26/2026

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Found 34 publications

Mistaking Gloriosa Tubers for Ginger: Moderate Symptoms after Accidental Ingestion of a Potentially Life-Threatening Amount of Colchicine.

Mistaking Gloriosa Tubers for Ginger: Moderate Symptoms after Accidental Ingestion of a Potentially Life-Threatening Amount of Colchicine.

Journal: Klinische Padiatrie

Published: February 02, 2026

Insights into genetic and clinical profiles of triple A syndrome in Sudanese children.

Insights into genetic and clinical profiles of triple A syndrome in Sudanese children.

Journal: Frontiers in endocrinology

Published: April 24, 2025

Very early and severe presentation of Triple A syndrome - case report and review of the literature.

Very early and severe presentation of Triple A syndrome - case report and review of the literature.

Journal: Frontiers in endocrinology

Published: May 11, 2024

A Humanized and Viable Animal Model for Congenital Adrenal Hyperplasia-CYP21A2-R484Q Mutant Mouse.

A Humanized and Viable Animal Model for Congenital Adrenal Hyperplasia-CYP21A2-R484Q Mutant Mouse.

Journal: International journal of molecular sciences

Published: March 15, 2024

Quantitative Characterization of Ectopic Adrenal Gene Expression in Fetal Testes in 21-Hydroxylase Deficient Mice.

Quantitative Characterization of Ectopic Adrenal Gene Expression in Fetal Testes in 21-Hydroxylase Deficient Mice.

Journal: Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme

Published: January 03, 2024

Fertility and sexual activity in patients with Triple A syndrome.

Fertility and sexual activity in patients with Triple A syndrome.

Journal: Frontiers in endocrinology

Published: December 17, 2023

Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome.

Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome.

Journal: HGG advances

Published: November 14, 2023

Generation of two homozygous SHOX2 knock-out human induced pluripotent stem cell lines using CRISPR/Cas9.

Generation of two homozygous SHOX2 knock-out human induced pluripotent stem cell lines using CRISPR/Cas9.

Journal: Stem cell research

Published: February 23, 2023

Acromicric dysplasia due to a novel missense mutation in the fibrillin 1 gene in a three-generation family.

Acromicric dysplasia due to a novel missense mutation in the fibrillin 1 gene in a three-generation family.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: June 03, 2022

CYP21A2 Gene Expression in a Humanized 21-Hydroxylase Mouse Model Does Not Affect Adrenocortical Morphology and Function.

CYP21A2 Gene Expression in a Humanized 21-Hydroxylase Mouse Model Does Not Affect Adrenocortical Morphology and Function.

Journal: Journal of the Endocrine Society

Published: December 15, 2021

Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.

Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.

Journal: Journal of the Endocrine Society

Published: March 19, 2021

Homozygous mutation in murine retrovirus integration site 1 gene associated with a non-syndromic form of isolated familial achalasia.

Homozygous mutation in murine retrovirus integration site 1 gene associated with a non-syndromic form of isolated familial achalasia.

Journal: Neurogastroenterology and motility

Published: March 18, 2020

Showing 1-12 of 34

Last Updated: 09/26/2026