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Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencing.
Baardman R, Lemmink HH, Yenamandra VK, Commandeur-Jan SZ, Viel M, Kooi KA, Diercks GFH, Meijer R, van Geel M, Scheffer H, Sinke RJ, Sikkema-Raddatz B, Bolling MC, van den Akker PC. Baardman R, et al. Among authors: bolling mc. J Eur Acad Dermatol Venereol. 2024 Mar 11. doi: 10.1111/jdv.19938. Online ahead of print. J Eur Acad Dermatol Venereol. 2024. PMID: 38465480
Disruption of TUFT1, a Desmosome-Associated Protein, Causes Skin Fragility, Woolly Hair, and Palmoplantar Keratoderma.
Verkerk AJMH, Andrei D, Vermeer MCSC, Kramer D, Schouten M, Arp P, Verlouw JAM, Pas HH, Meijer HJ, van der Molen M, Oberdorf-Maass S, Nijenhuis M, Romero-Herrera PH, Hoes MF, Bremer J, Slotman JA, van den Akker PC, Diercks GFH, Giepmans BNG, Stoop H, Saris JJ, van den Ouweland AMW, Willemsen R, Hublin JJ, Dean MC, Hoogeboom AJM, Silljé HHW, Uitterlinden AG, van der Meer P, Bolling MC. Verkerk AJMH, et al. Among authors: bolling mc. J Invest Dermatol. 2024 Feb;144(2):284-295.e16. doi: 10.1016/j.jid.2023.02.044. Epub 2023 Sep 15. J Invest Dermatol. 2024. PMID: 37716648 Free article.
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 SVJ, Clabbers JMK, Steijlen PM, van den Akker PC, Spuls PI, Middelkamp Hup MA, van Maarle MC, Vreeburg M, Bolling MC, van Geel M, Gostyński A. Rossel SVJ, et al. Among authors: bolling mc. J Eur Acad Dermatol Venereol. 2023 Dec;37(12):e1405-e1409. doi: 10.1111/jdv.19340. Epub 2023 Jul 24. J Eur Acad Dermatol Venereol. 2023. PMID: 37458571 No abstract available.
Clinical Outcome in KLHL24 Cardiomyopathy.
Vermeer MCSC, Arevalo Gomez KF, Hoes MF, Tromp J, Verdonschot JAJ, Henkens MTHM, Silljé HHW, Bolling MC, van der Meer P. Vermeer MCSC, et al. Among authors: bolling mc. Circ Genom Precis Med. 2023 Aug;16(4):401-403. doi: 10.1161/CIRCGEN.122.003998. Epub 2023 May 16. Circ Genom Precis Med. 2023. PMID: 37191012 Free PMC article. No abstract available.
87 results