Search Results - Judith Fischer

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  1. 1

    An Alternative Approach for the Synthesis of Sulfoquinovosyldiacylglycerol by Tobias Sitz, Hendrik Domey, Judith Fischer, Sascha Rohn

    Published in Molecules (2021-07-01)
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  2. 2

    Case Report: Successful treatment of a novel variant of CARD14-mutated juvenile Pityriasis rubra pilaris with ixekizumab by Laura Millak, Matthias Hahn, Judith Fischer, Sebastian Volc

    Published in Frontiers in Medicine (2025-07-01)
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  3. 3

    Congenital Hair Anomaly in Association with Hypodontia of Permanent Teeth: A Quiz by Karola Maria Stieler, Theodosia Bartzela, Christian Finke, Ulrike Blume-Peytavi, Judith Fischer

    Published in Acta Dermato-Venereologica (2020-07-01)
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  4. 4

    Gene Mutation Mapping in a Fatal Case of Phacomatosis Pigmentokeratotica Happle by Kinan Hayani, Kathrin Giehl, Jörg Kumbrink, Judith Fischer, Max Schlaak, Lars E. French, Andreas Wollenberg

    Published in Acta Dermato-Venereologica (2020-08-01)
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  5. 5

    ADAM33, a new candidate for psoriasis susceptibility. by Fabienne Lesueur, Tiphaine Oudot, Simon Heath, Mario Foglio, Mark Lathrop, Jean-François Prud'homme, Judith Fischer

    Published in PLoS ONE (2007-09-01)
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  6. 6

    Genetic and Phenotypic Features of 2 Northern Italy Families with Dowling-Degos Disease Type 4 by Dario Tomasini, Carlo F. Tomasini, Andrea Michelerio, Eloisa Arbustini, Fabio Sirchia, Alrun Hotz, Judith Fischer, Svenja Rademacher

    Published in JID Innovations (2025-07-01)
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  7. 7

    Chorea-Acanthocytosis Presenting as Autosomal Recessive Epilepsy in a Family With a Novel VPS13A Mutation by Juliane Weber, Lars Frings, Michel Rijntjes, Horst Urbach, Judith Fischer, Cornelius Weiller, Philipp T. Meyer, Stephan Klebe, Stephan Klebe

    Published in Frontiers in Neurology (2019-01-01)
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  8. 8

    Hereditary epidermolytic palmoplantar keratosis due to a novel desmoglein‐1 mutation: A case report by Kevin Koschitzki, Bernadett Kurz, Julia Schreml, Judith Fischer, Alrun Hotz, Christoph M. Hammers, Mark Berneburg, Dennis Niebel, Stephan Schreml

    Published in Clinical Case Reports (2024-05-01)
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  9. 9

    A novel SPINK5 donor splice site variant in a child with Netherton syndrome by Dillon Mintoff, Isabella Borg, Julia Vornweg, Liam Mercieca, Rijad Merdzanic, Johannes Numrich, Susan Aquilina, Nikolai Paul Pace, Judith Fischer

    Published in Molecular Genetics & Genomic Medicine (2021-03-01)
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  10. 10

    Identification of a novel missense mutation in NIPAL4 gene: First 3D model construction predicted its pathogenicity by Sahar Laadhar, Riadh Ben Mansour, Slaheddine Marrakchi, Nabil Miled, Mariem Ennouri, Judith Fischer, Mohamed Ali Kaddechi, Hamida Turki, Faiza Fakhfakh

    Published in Molecular Genetics & Genomic Medicine (2020-03-01)
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  11. 11

    Neonatal presentation of COG6‐CDG with prominent skin phenotype by Katalin Komlosi, Selina Gläser, Julia Kopp, Alrun Hotz, Svenja Alter, Andreas D. Zimmer, Carmela Beger, Stefan Heinzel, Christoph Schmidt, Judith Fischer

    Published in JIMD Reports (2020-09-01)
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  12. 12

    Heritability and tissue specificity of expression quantitative trait loci. by Enrico Petretto, Jonathan Mangion, Nicholas J Dickens, Stuart A Cook, Mande K Kumaran, Han Lu, Judith Fischer, Henrike Maatz, Vladimir Kren, Michal Pravenec, Norbert Hubner, Timothy J Aitman

    Published in PLoS Genetics (2006-10-01)
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  13. 13

    Shared inflammatory glial cell signature after stab wound injury, revealed by spatial, temporal, and cell-type-specific profiling of the murine cerebral cortex by Christina Koupourtidou, Veronika Schwarz, Hananeh Aliee, Simon Frerich, Judith Fischer-Sternjak, Riccardo Bocchi, Tatiana Simon-Ebert, Xianshu Bai, Swetlana Sirko, Frank Kirchhoff, Martin Dichgans, Magdalena Götz, Fabian J. Theis, Jovica Ninkovic

    Published in Nature Communications (2024-04-01)
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  14. 14

    Vitamin D Status in Distinct Types of Ichthyosis: Importance of Genetic Type and Severity of Scaling by Mi-Ran Kim, Vinzenz Oji, Frederic Valentin, Heiko Traupe, Jerzy-Roch Nofer, Ingrid Hausser, Hans Christian Hennies, Katja Eckl, Stefan A. Wudy, Alberto Sánchez-Guijo, Laura Kerschke, Judith Fischer, Kira Süßmuth

    Published in Acta Dermato-Venereologica (2021-09-01)
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  15. 15

    Parkinson's disease motor symptoms rescue by CRISPRa‐reprogramming astrocytes into GABAergic neurons by Jessica Giehrl‐Schwab, Florian Giesert, Benedict Rauser, Chu Lan Lao, Sina Hembach, Sandrine Lefort, Ignacio L Ibarra, Christina Koupourtidou, Malte Daniel Luecken, Dong‐Jiunn Jeffery Truong, Judith Fischer‐Sternjak, Giacomo Masserdotti, Nilima Prakash, Jovica Ninkovic, Sabine M Hölter, Daniela M Vogt Weisenhorn, Fabian J Theis, Magdalena Götz, Wolfgang Wurst

    Published in EMBO Molecular Medicine (2022-04-01)
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