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Genetic and rare skin diseases. Sign in to save
Papers per year
Papers 7
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Skin barrier lipid enzyme activity in Netherton patients is associated with protease activity and ceramide abnormalities2020 Journal of Lipid Research article Biochemistry, Genetics and Molecular Biology Genetic and rare skin diseases. Open access cited by 1 patent
Jeroen van Smeden, Hanin Al-Khakany, Yichen Wang, Dani Visscher, Samira Absalah, Herman S. Overkleeft, +3 more
29citations -
Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene2023 Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetic and rare skin diseases. Open access
Irma van de Beek, Iris E. Glykofridis, Michael W.T. Tanck, Monique Luijten, Theo M. Starink, Jesper A. Balk, +12 more
13citations -
Novel defect in phosphatidylinositol 4‐kinase type 2‐alpha ( PI4K2A ) at the membrane‐enzyme interface is associated with metabolic cutis laxa2020 Journal of Inherited Metabolic Disease article Biochemistry, Genetics and Molecular Biology Genetic and rare skin diseases. Open access
Miski Mohamed, Thatjana Gardeitchik, Shanti Balasubramaniam, Sergio Guerrero‐Castillo, Daisy Dalloyaux, Sanne van Kraaij, +14 more
10citations -
Two SMARCAD1 Variants Causing Basan Syndrome in a Canadian and a Dutch Family2021 JID Innovations article Biochemistry, Genetics and Molecular Biology Genetic and rare skin diseases. Open access
Youssef A. Elhaji, Tessa M. A. van Henten, Claudia A. L. Ruivenkamp, Mathew Nightingale, Gijs W.E. Santen, Lydia E. Vos, +1 more
3citations -
Anthracyclines disaggregate and restore mutant p63 function: a potential therapeutic approach for AEC syndrome2025 Cell Death Discovery article Biochemistry, Genetics and Molecular Biology Genetic and rare skin diseases. Open access
Fabiana Boncimino, Ludovica D’Auria, Kristina A. Todorova, Sabina Y. van der Zanden, Jacques Neefjes, Anna Mandinova, +2 more
2citations -
Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol syndrome, an inherited basal cell carcinoma susceptibility condition2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genetic and rare skin diseases. Open access
Yanshan Liu, Siddharth Banka, Yingzhi Huang, Jonathan Alan Hardman, Derek Pye, Antonio Torrelo, +25 more
0citations
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Most active Aachen authors
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Johannes M. F. G. Aerts 29,390 citations overall2 papers
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Jacques Neefjes 40,820 citations overall1 paper
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Pieter E. Postmus 38,038 citations overall1 paper
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Herman S. Overkleeft 29,012 citations overall1 paper
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Joke A. Bouwstra 27,627 citations overall1 paper
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Claudia A. L. Ruivenkamp 10,749 citations overall1 paper
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Gijs W.E. Santen 7,222 citations overall1 paper
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Jeroen van Smeden 3,541 citations overall1 paper
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Theo M. Starink 2,940 citations overall1 paper
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Wouter W. Kallemeijn 2,624 citations overall1 paper
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Albert Rübben 1,452 citations overall1 paper
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Sabina Y. van der Zanden 1,125 citations overall1 paper
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Samira Absalah 584 citations overall1 paper
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Sebastiaan A. S. van der Bent 556 citations overall1 paper
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Dani Visscher 142 citations overall1 paper