Mathilde C S C Vermeer
6PUBLICATIONS
28CO-AUTHORS
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Publications (6)
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|Apr 16, 2025
Understanding Genotype-Phenotype Correlations of Desmoplakin Splice Site Variants.Maria C Bolling, Mathilde C S C Vermeer
|Mar 21, 2024
Epidermal growth factor receptor inhibition leads to cellular phenotype correction of DSP-mutated keratinocytes.Daniela Andrei, Jeroen Bremer, Duco Kramer
|May 16, 2023
Clinical Outcome in KLHL24 Cardiomyopathy.Mathilde C S C Vermeer, Karla F Arevalo Gomez, Martijn F Hoes
|Aug 17, 2022
A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation.Mathilde C S C Vermeer, Mohammad Al-Shinnag, Herman H W Silljé
|Mar 24, 2022
Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose-dependent disease severity.Mathilde C S C Vermeer, Daniela Andrei, Duco Kramer
|Jul 22, 2021
Dynamic loading of human engineered heart tissue enhances contractile function and drives a desmosome-linked disease phenotype.Jacqueline M Bliley, Mathilde C S C Vermeer, Rebecca M Duffy
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Frequent Collaborators
3 joint publications
Peter van der Meer
2 joint publications
Maria C Bolling
2 joint publications
Martijn F Hoes
1 joint publications
Jacqueline M Bliley
1 joint publications
Ivan Batalov
1 joint publications
Duco Kramer
1 joint publications
Joshua W Tashman
1 joint publications
Daniel J Shiwarski
1 joint publications
Andrew Lee
1 joint publications
Jeroen Bremer
