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Rijksuniversiteit Groningenfounded in 1614  -  top 100 university
Over ons Praktische zaken Waar vindt u ons dr. P.C. (Peter) van den Akker
University Medical Center Groningen

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

Klinisch geneticus
Profielfoto van dr. P.C. (Peter) van den Akker
Telefoon:
050 361 7100 (Algemeen secretariaat afdeling Genetica, UMCG)
E-mail:
p.c.van.den.akker umcg.nl

Publicaties

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

Long-read sequencing cracks unsolved cases and further improves genome diagnostics in epidermolysis bullosa

Novel ATP2C1 genetic variants in a Dutch cohort of patients with Hailey-Hailey disease

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

Pers/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