Thomas Eggermann

Aachen, NW 52074, Germany

Last Updated: 09/26/2026

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Found 207 publications

Exome and Genome Sequencing for the Diagnosis of Rare Diseases.

Exome and Genome Sequencing for the Diagnosis of Rare Diseases.

Journal: Deutsches Arzteblatt international

Published: March 19, 2026

International guideline on genetic testing of children with short stature.

International guideline on genetic testing of children with short stature.

Journal: European journal of endocrinology

Published: January 03, 2026

International guideline on genetic testing of children with short stature.

International guideline on genetic testing of children with short stature.

Journal: European journal of endocrinology

Published: January 03, 2026

Prenatal Genetic Testing for Beckwith-Wiedemann Syndrome: Considerations, Challenges and Observations (A Real-World Study).

Prenatal Genetic Testing for Beckwith-Wiedemann Syndrome: Considerations, Challenges and Observations (A Real-World Study).

Journal: Prenatal diagnosis

Published: November 22, 2025

Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype-Phenotype Correlation.

Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype-Phenotype Correlation.

Journal: Clinical genetics

Published: October 30, 2025

EndoCompass Project: Research Roadmap for Growth Disorders.

EndoCompass Project: Research Roadmap for Growth Disorders.

Journal: Hormone research in paediatrics

Published: October 14, 2025

Hypomethylation of the MEG8:Int2-DMR in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndrome.

Hypomethylation of the MEG8:Int2-DMR in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndrome.

Journal: Clinical epigenetics

Published: September 23, 2025

The potential of whole genome sequencing in pharmacogenetics: a retrospective health record study in rare disease patients.

The potential of whole genome sequencing in pharmacogenetics: a retrospective health record study in rare disease patients.

Journal: European journal of human genetics : EJHG

Published: August 28, 2025

Comprehensive Genetic Testing for Clinical Decision-Making in a Patient With Congenital Hyperinsulinism.

Comprehensive Genetic Testing for Clinical Decision-Making in a Patient With Congenital Hyperinsulinism.

Journal: Genetics research

Published: April 10, 2025

EndoCompass project: research roadmap for growth disorders.

EndoCompass project: research roadmap for growth disorders.

Journal: European journal of endocrinology

Published: February 19, 2025

Congenital Imprinting Diseases: Aetiology, Pre- and Perinatal Manifestations, Diagnosis and Care of Affected Families and Pregnancies.

Congenital Imprinting Diseases: Aetiology, Pre- and Perinatal Manifestations, Diagnosis and Care of Affected Families and Pregnancies.

Journal: Geburtshilfe und Frauenheilkunde

Published: January 20, 2025

Modulating effects of fitness and physical activity on Alzheimer's disease: Implications from a six-month randomized controlled sports intervention.

Modulating effects of fitness and physical activity on Alzheimer's disease: Implications from a six-month randomized controlled sports intervention.

Journal: Journal of Alzheimer's disease : JAD

Published: January 15, 2025

Showing 1-12 of 207

Last Updated: 09/26/2026