Research output per year
Research output per year
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Disruption of tuftelin 1, a desmosome associated protein, causes skin fragility, woolly hair and palmoplantar keratoderma
Verkerk, A. J. M. H., Andrei, D., Vermeer, M. C. S. C., Kramer, D., Schouten, M., Arp, P., Verlouw, J. A. M., Pas, H. H., Meijer, H. J., van der Molen, M., Oberdorf-Maass, S., Nijenhuis, M., Romero-Herrera, P. H., Hoes, M. F., Bremer, J., Slotman, J. A., van den Akker, P. C., Diercks, G. F. H., Giepmans, B. N. G., Stoop, H., & 10 others, 14-Sept-2023, (E-pub ahead of print) In: Journal of Investigative Dermatology.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile3 Downloads (Pure) -
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
Rossel, S. V. J., Clabbers, J. M. K., Steijlen, P. M., van den Akker, P. C., Spuls, P. I., Middelkamp Hup, M. A., van Maarle, M. C., Vreeburg, M., Bolling, M. C., van Geel, M. & Gostyński, A., 17-Jul-2023, (E-pub ahead of print) In: Journal of the European Academy of Dermatology and Venereology.Research output: Contribution to journal › Letter › Academic › peer-review
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Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations: A case report
Remmelzwaal, P. C., Verhagen, M. V., Jongbloed, J. D. H., van den Akker, P. C., Veenstra-Knol, H. E. & Hitzert, M. M., Sept-2023, In: American Journal of Medical Genetics. Part A. 191, 9, p. 2440-2445 6 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile3 Downloads (Pure) -
Harmonization of outcomes in epidermolysis bullosa - report of the Core Outcome Sets for Epidermolysis Bullosa (COSEB) kick-off meeting
Korte, E. W. H., Spuls, P. I., van den Akker, P. C., Kiritsi, D., Laimer, M., Pasmooij, A. M. G., Riedl, R., Vroom, E., Wally, V., Welponer, T. & Bolling, M. C., 4-Oct-2023, (E-pub ahead of print) In: The British journal of dermatology. 6 p., ljad361.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Heterogeneity of reported outcomes in epidermolysis bullosa clinical research: a scoping review as a first step towards outcome harmonization
Korte, E. W. H., Welponer, T., Kottner, J., van der Werf, S., van den Akker, P. C., Horváth, B., Kiritsi, D., Laimer, M., Pasmooij, A. M. G., Wally, V. & Bolling, M. C., 7-Jul-2023, In: The British journal of dermatology. 189, 1, p. 80-90 11 p.Research output: Contribution to journal › Review article › peer-review
Open AccessFile1 Citation (Scopus)7 Downloads (Pure)
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Groningen Expertise Center for Genodermatosis (External organisation)
Peter van den Akker (Chair)
2021Activity: Membership › Professional
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Translational perspectives of exon skipping for epidermolysis bullosa (EB)
Peter van den Akker (Invited speaker)
16-Sept-2021Activity: Talk and presentation › Professional or public presentation › Professional
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The Dutch EB Registry (Dutch EB-Reg)
Peter van den Akker (Invited speaker)
17-Sept-2021Activity: Talk and presentation › Professional or public presentation › Professional
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European Reference Network Skin (External organisation)
Peter van den Akker (Member)
2021Activity: Membership › Professional
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Exon skipping for RDEB
Peter Akker, van den (Invited speaker)
21-Jan-2020Activity: Talk and presentation › Professional or public presentation › Professional
Press/Media
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Huid Shivan net zo kwetsbaar als de vleugels van een vlinder
02/11/2019
1 Media contribution
Press/Media: Public Engagement Activities › Popular
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DEBRA Funds 4th year towards Novel Gene Technology for Epidermolysis Bullosa
01/06/2019 → 24/09/2019
2 items of Media coverage
Press/Media: Other › Professional