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1988 1
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99 results

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Page 1
Diagnostisches Next Generation Sequencing bei neonataler Erythrodermie.
Cuperus E, Sigurdsson V, van den Akker PC, Bolling MC, van Gijn ME, Pasmans SGMA. Cuperus E, et al. Among authors: van den akker pc. J Dtsch Dermatol Ges. 2021 Apr;19(4):611-614. doi: 10.1111/ddg.14298_g. J Dtsch Dermatol Ges. 2021. PMID: 33861020 German. No abstract available.
RNA-based therapies for genodermatoses.
Bornert O, Peking P, Bremer J, Koller U, van den Akker PC, Aartsma-Rus A, Pasmooij AM, Murauer EM, Nyström A. Bornert O, et al. Among authors: van den akker pc. Exp Dermatol. 2017 Jan;26(1):3-10. doi: 10.1111/exd.13141. Exp Dermatol. 2017. PMID: 27376675 Free PMC article. Review.
Towards a roadmap for COSEB: the next steps in harmonization of outcomes for epidermolysis bullosa.
Korte EWH, Pasmooij AMG, Bolling MC, Hickey S, Hussain S, Kiritsi D, Kottner J, Prinsen CAC, Sauvestre A, Sendin G, Spuls PI, Tarrats N, Wally V, Welponer T, Laimer M, van den Akker PC; COSEB Consortium. Korte EWH, et al. Among authors: van den akker pc. Br J Dermatol. 2024 Aug 14;191(3):463-465. doi: 10.1093/bjd/ljae200. Br J Dermatol. 2024. PMID: 38865426 No abstract available.
Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa.
Vermeer FC, Bremer J, Sietsma RJ, Sandilands A, Hickerson RP, Bolling MC, Pasmooij AMG, Lemmink HH, Swertz MA, Knoers NVAM, van der Velde KJ, van den Akker PC. Vermeer FC, et al. Among authors: van den akker pc. Int J Mol Sci. 2021 Nov 12;22(22):12222. doi: 10.3390/ijms222212222. Int J Mol Sci. 2021. PMID: 34830104 Free PMC article. Review.
Diagnostic next generation sequencing in neonatal erythroderma.
Cuperus E, Sigurdsson V, van den Akker PC, Bolling MC, van Gijn ME, Pasmans SGMA. Cuperus E, et al. Among authors: van den akker pc. J Dtsch Dermatol Ges. 2021 Apr;19(4):612-614. doi: 10.1111/ddg.14298. Epub 2020 Oct 26. J Dtsch Dermatol Ges. 2021. PMID: 33103336 No abstract available.
PRDM10 directs FLCN expression in a novel disorder overlapping with Birt-Hogg-Dubé syndrome and familial lipomatosis.
van de Beek I, Glykofridis IE, Oosterwijk JC, van den Akker PC, Diercks GFH, Bolling MC, Waisfisz Q, Mensenkamp AR, Balk JA, Zwart R, Postma AV, Meijers-Heijboer HEJ, van Moorselaar RJA, Wolthuis RMF, Houweling AC. van de Beek I, et al. Among authors: van den akker pc. Hum Mol Genet. 2023 Mar 20;32(7):1223-1235. doi: 10.1093/hmg/ddac288. Hum Mol Genet. 2023. PMID: 36440963 Free PMC article.
Hyperkeratotic hand eczema: Eczema or not?
Politiek K, Loman L, Pas HH, Diercks GFH, Lemmink HH, Jan SZ, van den Akker PC, Bolling MC, Schuttelaar MLA. Politiek K, et al. Among authors: van den akker pc. Contact Dermatitis. 2020 Sep;83(3):196-205. doi: 10.1111/cod.13572. Epub 2020 Jun 1. Contact Dermatitis. 2020. PMID: 32333380 Free PMC article.
A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation.
Vermeer MCSC, Al-Shinnag M, Silljé HHW, Gaytan AE, Murrell DF, McGaughran J, Melbourne W, Cowan T, van den Akker PC, van Spaendonck-Zwarts KY, van der Meer P, Bolling MC. Vermeer MCSC, et al. Among authors: van den akker pc. Br J Dermatol. 2022 Dec;187(6):1045-1048. doi: 10.1111/bjd.21832. Epub 2022 Sep 9. Br J Dermatol. 2022. PMID: 35975634 Free PMC article.
99 results