Hasil Pencarian - Judith Fischer

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  1. 1
    Genetics of Inherited Ichthyoses and Related Diseases

    Genetics of Inherited Ichthyoses and Related Diseases oleh Judith Fischer, Emmanuelle Bourrat

    Diterbitkan 2020-03-01
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  2. 2
    An Alternative Approach for the Synthesis of Sulfoquinovosyldiacylglycerol

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

    Diterbitkan 2021-07-01
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  3. 3
    Congenital Hair Anomaly in Association with Hypodontia of Permanent Teeth: A Quiz

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

    Diterbitkan 2020-07-01
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  4. 4
    A Family with Palmar and Plantar Hyperkeratosis: A Quiz

    A Family with Palmar and Plantar Hyperkeratosis: A Quiz oleh Hazem A. Juratli, Sabine Jägle, Rudolf Happle, Pinar Avci, Dario Didona, Judith Fischer

    Diterbitkan 2020-02-01
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  5. 5
    Ichthyosis with Confetti Inherited from a Mosaic Father

    Ichthyosis with Confetti Inherited from a Mosaic Father oleh Kristine A.U. Pallesen, Ole Clemmensen, Judith Fischer, Jens Michael Hertz, Anette Bygum

    Diterbitkan 2017-09-01
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  6. 6
    The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis

    The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis oleh Cristina Has, Julia Küsel, Antonia Reimer, Julia Hoffmann, Franziska Schauer, Andreas Zimmer, Judith Fischer

    Diterbitkan 2018-01-01
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  7. 7
    Gene Mutation Mapping in a Fatal Case of Phacomatosis Pigmentokeratotica Happle

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

    Diterbitkan 2020-08-01
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  8. 8
    Alitretinoin reduces erythema in inherited ichthyosis

    Alitretinoin reduces erythema in inherited ichthyosis oleh Giuliana Onnis, Christine Chiaverini, Geoffroy Hickman, Isabelle Dreyfus, Judith Fischer, Emmanuelle Bourrat, Juliette Mazereeuw-Hautier

    Diterbitkan 2018-04-01
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  9. 9
    ADAM33, a new candidate for psoriasis susceptibility.

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

    Diterbitkan 2007-09-01
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  10. 10
    Chorea-Acanthocytosis Presenting as Autosomal Recessive Epilepsy in a Family With a Novel VPS13A Mutation

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

    Diterbitkan 2019-01-01
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  11. 11
    Hereditary epidermolytic palmoplantar keratosis due to a novel desmoglein‐1 mutation: A case report

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

    Diterbitkan 2024-05-01
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  12. 12
    A novel SPINK5 donor splice site variant in a child with Netherton syndrome

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

    Diterbitkan 2021-03-01
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  13. 13
    Identification of a novel missense mutation in NIPAL4 gene: First 3D model construction predicted its pathogenicity

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

    Diterbitkan 2020-03-01
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  14. 14
    Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation

    Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation oleh Mariem Ennouri, Andreas D. Zimmer, Emna Bahloul, Rim Chaabouni, Slaheddine Marrakchi, Hamida Turki, Faiza Fakhfakh, Noura Bougacha-Elleuch, Judith Fischer

    Diterbitkan 2022-01-01
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  15. 15
    Case Report: Diagnostic and Therapeutic Challenges in Severe Mechanobullous Epidermolysis Bullosa Acquisita

    Case Report: Diagnostic and Therapeutic Challenges in Severe Mechanobullous Epidermolysis Bullosa Acquisita oleh Franziska Schauer, Alexander Nyström, Manfred Kunz, Stefanie Hübner, Sarah Scholl, Ioannis Athanasiou, Svenja Alter, Judith Fischer, Cristina Has, Dimitra Kiritsi

    Diterbitkan 2022-04-01
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  16. 16
    Neonatal presentation of COG6‐CDG with prominent skin phenotype

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

    Diterbitkan 2020-09-01
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  17. 17
    Tazarotene 0.015% Cream as a Potential Topical Agent for Management of Ichthyosis in Dorfman-Chanarin Syndrome

    Tazarotene 0.015% Cream as a Potential Topical Agent for Management of Ichthyosis in Dorfman-Chanarin Syndrome oleh Luana Niculescu, Cristel Ruini, Jerome Srour, Suzanna Salzer, Ines Schönbuchner, Tanja von Braunmühl, Thomas Ruzicka, Ulrich Hohenleutner, Kathrin A. Giehl, Judith Fischer, Andreas Wollenberg

    Diterbitkan 2019-01-01
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  18. 18
    Porokeratosis Plantaris, Palmaris et Disseminata Caused by Con- genital Pathogenic Variants in the MVD Gene and Loss of Hetero­zygosity in Affected Skin

    Porokeratosis Plantaris, Palmaris et Disseminata Caused by Con- genital Pathogenic Variants in the MVD Gene and Loss of Hetero­zygosity in Affected Skin oleh Sabine Jägle, Hazem A. Juratli, Geoffroy Hickman, Kira Süssmuth, Maria C. Boente, Julia Kopp, Peter Kirchmeier, Andreas Zimmer, Rudolf Happle, Emmanuelle Bourrat, Henning Hamm, Judith Fischer

    Diterbitkan 2021-02-01
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  19. 19
    Heritability and tissue specificity of expression quantitative trait loci.

    Heritability and tissue specificity of expression quantitative trait loci. oleh 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

    Diterbitkan 2006-10-01
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  20. 20
    Correction: Mutations in Cause Autosomal Recessive Congenital Ichthyosis in Humans.

    Correction: Mutations in Cause Autosomal Recessive Congenital Ichthyosis in Humans. oleh Franz P. W. Radner, Slaheddine Marrakchi, Peter Kirchmeier, Gwang-Jin Kim, Florence Ribierre, Bourane Kamoun, Leila Abid, Michael Leipoldt, Hamida Turki, Werner Schempp, Roland Heilig, Mark Lathrop, Judith Fischer

    Diterbitkan 2013-06-01
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