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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

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

Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations: A case report

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

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

Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1

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Huid Shivan net zo kwetsbaar als de vleugels van een vlinder

DEBRA Funds 4th year towards Novel Gene Technology for Epidermolysis Bullosa