Publications by authors named "Uta Matysiak"

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3-M syndrome: evolution of the phenotype over time.
Isabelle Bacchi, Sara Vandelli, Emanuele Coccia, Lucrezia Giannini, Roberta Zuntini, Uta Matysiak

Ital J Pediatr· December 2025

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Benchmarking whole exome sequencing in the German network for personalized medicine.
Michael Menzel, Mihaela Martis-Thiele, Hannah Goldschmid, Alexander Ott, Eva Romanovsky, Uta Matysiak

Eur J Cancer· November 2024

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Comprehensive genetic profiling and molecularly guided treatment for patients with primary CNS tumors.
Julia C Kuehn, Patrick Metzger, Nicolas Neidert, Uta Matysiak, Linda Gräßel

NPJ Precis Oncol· August 2024

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A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in .
Francisco Cammarata-Scalisi, Uta Matysiak, Colin E Willoughby, Gunda Ruzaike, Antonio Cárdenas Tadich

J Pediatr Genet· December 2023

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Erratum: Corrigendum: A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in .
Francisco Cammarata-Scalisi, Uta Matysiak, Colin E Willoughby, Gunda Ruzaike, Antonio Cárdenas Tadich

J Pediatr Genet· December 2023

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Multicentric pilot study to standardize clinical whole exome sequencing (WES) for cancer patients.
Michael Menzel, Stephan Ossowski, Sebastian Kral, Patrick Metzger, Peter Horak, Uta Matysiak

NPJ Precis Oncol· October 2023

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Functional assessment of two variants of unknown significance in TEK by endothelium-specific expression in zebrafish embryos.
Lorenz M Bell, Annegret Holm, Uta Matysiak, Wolfgang Driever, Jochen Rößler

Hum Mol Genet· December 2021

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Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?
Sara Tucci, Christine Wagner, Sarah C Grünert, Uta Matysiak, Natalie Weinhold

J Inherit Metab Dis· July 2021

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A Homozygous Deletion of Exon 5 of Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome.
Isabel Schüle, Urs Berger, Uta Matysiak, Gunda Ruzaike, Brigitte Stiller

Genes (Basel)· June 2021

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Isolated Hypomethylation of Associated with Severe Hypoglycemia Responsive to Growth Hormone Treatment.
Sarah C Grünert, Uta Matysiak, Franka Hodde, Gunda Ruzaike, Ekkehart Lausch

Diagnostics (Basel)· April 2021

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[Infant with bilateral corneal opacity and aniridia].
Helena Wagner, Uta Matysiak, Wolf A Lagrèze

Ophthalmologe· November 2020

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A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in .
Francisco Cammarata-Scalisi, Uta Matysiak, Tanja Velten, Michele Callea, Dianora Araque

Mol Syndromol· May 2019

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The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD).
Julia Hesse, Carina Braun, Sidney Behringer, Uta Matysiak, Ute Spiekerkoetter

J Inherit Metab Dis· November 2018

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