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Publicaties

Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencing

Harmonization of outcomes in epidermolysis bullosa: report of the Core Outcome Sets for Epidermolysis Bullosa (COSEB) kick-off meeting

Recommendations on single-cell RNA sequencing of skin xenografts in the study of genetic skin diseases

Clinical Outcome in KLHL24 Cardiomyopathy

Disruption of tuftelin 1, a desmosome associated protein, causes skin fragility, woolly hair and palmoplantar keratoderma

Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions

Heterogeneity of reported outcomes in epidermolysis bullosa clinical research: a scoping review as a first step towards outcome harmonization

Palmoplantar keratoderma as a clinical feature of pathogenic variants in the filaggrin gene

Paraneoplastic pemphigus. A detailed case series from the Netherlands revealing atypical cases

PRDM10 directs FLCN expression in a novel disorder overlapping with Birt-Hogg-Dubé syndrome and familial lipomatosis

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Pers/media

Verkoop stoofperen Gieser Wildeman voor stichting Vlinderkind

De wonden blijven dicht: genetische zalf biedt patiënten met ernstige huidziekte hoop

UMCG start onderzoek naar effecten medicinale cannabisolie

Onderzoek gestart naar effecten medicinale cannabisolie bij EB-patiënten

UMCG beginnt mit der Erforschung der Wirkung von medizinischem Cannabisöl bei EB-Patienten – Eemskrant.nl

UMCG untersucht die Wirkung von Cannabis bei schwerer Blasenbildung

UMCG start onderzoek naar effecten medicinale cannabisolie bij EB-patiënten

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