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Katrin Koehler

3PUBLICATIONS
37CO-AUTHORS
Cheminformatics and quantitative structure-activity relationshipsInfant and child healthCancer genetics
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Publications (3)

Sort by Publication Date:
|May 20, 2022
<i>CYP21A2</i> Gene Expression in a Humanized 21-Hydroxylase Mouse Model Does Not Affect Adrenocortical Morphology and Function.

Tina Schubert, Nicole Reisch, Ronald Naumann

|Jul 14, 2021
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.

Federica Buonocore, Avinaash Maharaj, Younus Qamar

|Dec 12, 2019
A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome.

Katrin Koehler, Markus Schuelke, Anna K Hell

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Frequent Collaborators

2 joint publications

Angela Huebner

1 joint publications

Federica Buonocore

1 joint publications

Avinaash Maharaj

1 joint publications

Younus Qamar

1 joint publications

Jenifer P Suntharalingham

1 joint publications

Li F Chan

1 joint publications

Bruno Ferraz-de-Souza

1 joint publications

Claire R Hughes

1 joint publications

Rathi Prasad

1 joint publications

Jeremy Allgrove

Frequent Collaborators

2 joint publications

Angela Huebner

1 joint publications

Federica Buonocore

1 joint publications

Avinaash Maharaj

1 joint publications

Younus Qamar

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