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About us Practical matters How to find us dr. P.C. (Peter) van den Akker
University Medical Center Groningen

dr. P.C. (Peter) van den Akker

Clinical geneticist
Profile picture of dr. P.C. (Peter) van den Akker
Telephone:
+31 50 361 7100 (Secretary Department of Genetics, UMCG)
E-mail:
p.c.van.den.akker umcg.nl

Publications

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

Identifying high-risk melanoma patients: The importance of acquiring a detailed family history

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

Epidermal growth factor receptor inhibition leads to cellular phenotype correction of DSP-mutated keratinocytes

Exon skipping in ex vivo human skin highlights the potential of antisense oligonucleotide-mediated exon skipping as systemic treatment for recessive dystrophic epidermolysis bullosa

Gentherapie voor epidermolysis bullosa

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

Navigating the diagnostic journey of epidermolysis bullosa - a qualitative study on the lived experiences and needs of parents and patients

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

Risk profiles of antisense oligonucleotide therapy: A systematic review and meta-analysis on adverse events in clinical trials studies

Press/media

Zoektocht naar genezende behandeling voor ”vlinderziekte”nog in volle gang

Huid Shivan net zo kwetsbaar als de vleugels van een vlinder

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