Udo Koehler

Munich, BY, Germany

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 24 publications

RUNX1-FPDMM in families with mild thrombocytopenia and platelet function anomalies: a case series.

RUNX1-FPDMM in families with mild thrombocytopenia and platelet function anomalies: a case series.

Journal: Frontiers in medicine

Published: June 30, 2025

DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.

DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.

Journal: European journal of human genetics : EJHG

Published: May 01, 2025

Optical Genome Mapping as a Potential Routine Clinical Diagnostic Method.

Optical Genome Mapping as a Potential Routine Clinical Diagnostic Method.

Journal: Genes

Published: January 29, 2024

Genome Mapping Nomenclature.

Genome Mapping Nomenclature.

Journal: Cytogenetic and genome research

Published: October 30, 2023

Aneuploidy in oocytes from women of advanced maternal age: analysis of the causal meiotic errors and impact on embryo development.

Aneuploidy in oocytes from women of advanced maternal age: analysis of the causal meiotic errors and impact on embryo development.

Journal: Human reproduction (Oxford, England)

Published: May 23, 2023

Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group.

Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group.

Journal: European journal of human genetics : EJHG

Published: September 25, 2021

Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer.

Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer.

Journal: Journal of medical genetics

Published: September 01, 2021

A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies.

A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies.

Journal: Cells

Published: August 16, 2021

Correction to: CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NFIA genes.

Correction to: CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NFIA genes.

Journal: Molecular cytogenetics

Published: March 22, 2021

Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes.

Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes.

Journal: European journal of human genetics : EJHG

Published: February 27, 2019

Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family study.

Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family study.

Journal: Cytoskeleton (Hoboken, N.J.)

Published: March 22, 2018

Extending the critical regions for mutations in the non-coding gene RNU4ATAC in another patient with Roifman Syndrome.

Extending the critical regions for mutations in the non-coding gene RNU4ATAC in another patient with Roifman Syndrome.

Journal: Clinical case reports

Published: February 19, 2018

Showing 1-12 of 24

Last Updated: 09/26/2026