Uta Matysiak

Freiburg, BW, Germany

Last Updated: 09/26/2026

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Found 13 publications

3-M syndrome: evolution of the phenotype over time.

3-M syndrome: evolution of the phenotype over time.

Journal: Italian journal of pediatrics

Published: July 18, 2025

Erratum: Corrigendum: A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1.

Erratum: Corrigendum: A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1.

Journal: Journal of pediatric genetics

Published: July 12, 2024

Benchmarking whole exome sequencing in the German network for personalized medicine.

Benchmarking whole exome sequencing in the German network for personalized medicine.

Journal: European journal of cancer (Oxford, England : 1990)

Published: June 20, 2024

Comprehensive genetic profiling and molecularly guided treatment for patients with primary CNS tumors.

Comprehensive genetic profiling and molecularly guided treatment for patients with primary CNS tumors.

Journal: NPJ precision oncology

Published: April 29, 2024

Multicentric pilot study to standardize clinical whole exome sequencing (WES) for cancer patients.

Multicentric pilot study to standardize clinical whole exome sequencing (WES) for cancer patients.

Journal: NPJ precision oncology

Published: April 03, 2023

A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome.

A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome.

Journal: Genes

Published: May 04, 2021

Isolated Hypomethylation of IGF2 Associated with Severe Hypoglycemia Responsive to Growth Hormone Treatment.

Isolated Hypomethylation of IGF2 Associated with Severe Hypoglycemia Responsive to Growth Hormone Treatment.

Journal: Diagnostics (Basel, Switzerland)

Published: March 26, 2021

Functional assessment of two variants of unknown significance in TEK by endothelium-specific expression in zebrafish embryos.

Functional assessment of two variants of unknown significance in TEK by endothelium-specific expression in zebrafish embryos.

Journal: Human molecular genetics

Published: February 18, 2021

A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1.

A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1.

Journal: Journal of pediatric genetics

Published: February 10, 2021

Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?

Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?

Journal: Journal of inherited metabolic disease

Published: October 10, 2020

Infant with bilateral corneal opacity and aniridia

Infant with bilateral corneal opacity and aniridia

Journal: Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft

Published: February 09, 2020

A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1.

A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1.

Journal: Molecular syndromology

Published: December 13, 2018

Showing 1-12 of 13

Last Updated: 09/26/2026