檢索結果 - Judith Fischer

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  1. 1
    Autosomal Recessive Congenital Ichthyosis

    Autosomal Recessive Congenital Ichthyosis 由 Judith Fischer

    出版 2009
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  2. 2
    Mutations in the gene encoding SLURP-1 in Mal de Meleda

    Mutations in the gene encoding SLURP-1 in Mal de Meleda 由 Judith Fischer

    出版 2001
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  3. 3
    Inherited epidermolysis bullosa: New diagnostics and new clinical phenotypes

    Inherited epidermolysis bullosa: New diagnostics and new clinical phenotypes 由 Cristina Has, Judith Fischer

    出版 2018
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  4. 4
    Genetics of Inherited Ichthyoses and Related Diseases

    Genetics of Inherited Ichthyoses and Related Diseases 由 Judith Fischer, E. Bourrat

    出版 2020
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  5. 5
    Nonsyndromic types of ichthyoses – an update

    Nonsyndromic types of ichthyoses – an update 由 Heiko Traupe, Judith Fischer, Vinzenz Oji

    出版 2013
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  6. 6
    Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment

    Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment 由 Anders Vahlquist, Judith Fischer, Hans Törmä

    出版 2017
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  7. 7
    Pre- and postsynaptic localizations of the CB1 cannabinoid receptor in the dorsal horn of the rat spinal cord

    Pre- and postsynaptic localizations of the CB1 cannabinoid receptor in the dorsal horn of the rat spinal cord 由 Chiara Salio, Judith Fischer, Maria Fosca Franzoni, M. Conrath

    出版 2002
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  8. 8
    Genotypic and Clinical Spectrum of Self-Improving Collodion Ichthyosis: ALOX12B, ALOXE3, and TGM1 Mutations in Scandinavian Patients

    Genotypic and Clinical Spectrum of Self-Improving Collodion Ichthyosis: ALOX12B, ALOXE3, and TGM1 Mutations in Scandinavian Patients 由 Anders Vahlquist, Anette Bygum, Agneta Gånemo, Marie Virtanen, Maritta Hellström-Pigg, Gitte Strauss, F Brandrup, Judith Fischer

    出版 2009
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  9. 9
    Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3

    Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3 由 Caroline Lefèvre, B. Bouadjar, Véronique Ferrand, Gianluca Tadini, André Mégarbané, Mark Lathrop, Jean‐François Prud'homme, Judith Fischer

    出版 2006
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  10. 10
    Adult neural stem cell activation in mice is regulated by the day/night cycle and intracellular calcium dynamics

    Adult neural stem cell activation in mice is regulated by the day/night cycle and intracellular calcium dynamics 由 Archana Gengatharan, Sarah Malvaut, Alina Marymonchyk, Majid Ghareghani, Marina Snapyan, Judith Fischer, Jovica Ninkovic, Magdalena Götz, Armen Saghatelyan

    出版 2021
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  11. 11
    Vancomycin pharmacokinetics in patients with various degrees of renal function

    Vancomycin pharmacokinetics in patients with various degrees of renal function 由 Keith A. Rodvold, Robert A. Blum, Judith Fischer, Humphrey Z. Zokufa, John C. Rotschafer, Kent Crossley, Louise J. Riff

    出版 1988
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  12. 12
    Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis

    Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis 由 Caroline Lefèvre, B. Bouadjar, Ayşen Karaduman, Florence Jobard, Safa Saker, Meral Özgüç, Mark Lathrop, Jean-François Prud’homme, Judith Fischer

    出版 2004
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  13. 13
    Mutations in the Fatty Acid Transport Protein 4 Gene Cause the Ichthyosis Prematurity Syndrome

    Mutations in the Fatty Acid Transport Protein 4 Gene Cause the Ichthyosis Prematurity Syndrome 由 Joakim Klar, Martina Schweiger, Robert J. Zimmerman, Rudolf Zechner, Hao Li, Hans Törmä, Anders Vahlquist, B. Bouadjar, Niklas Dahl, Judith Fischer

    出版 2009
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  14. 14
    Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans

    Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans 由 Lisa Heinz, Gwang-Jin Kim, Slaheddine Marrakchi, Julie Christiansen, H. Turki, Marc‐Alexander Rauschendorf, Mark Lathrop, Ingrid Haußer, Andreas Zimmer, Judith Fischer

    出版 2017
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  15. 15
    Kindler syndrome: Extension of FERMT1 mutational spectrum and natural history

    Kindler syndrome: Extension of FERMT1 mutational spectrum and natural history 由 Cristina Has, Daniele Castiglia, Marcela Del Río, Marta Garcia Diez, Eugenia Piccinni, Dimitra Kiritsi, Jürgen Kohlhase, Peter Itin, Ludovic Martin, Judith Fischer, Giovanna Zambruno, Leena Bruckner‐Tuderman

    出版 2011
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  16. 16
    l-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1

    l-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1 由 Meral Topçu, Florence Jobard, Sophie Halliez, Turgay Coşkun, Cengiz Yalçinkayal, Filiz Özbas‐Gerçeker, Ronald J. A. Wanders, Jean-François Prud’homme, Mark Lathrop, Meral Özgüç, Judith Fischer

    出版 2004
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  17. 17
    Heritability and Tissue Specificity of Expression Quantitative Trait Loci

    Heritability and Tissue Specificity of Expression Quantitative Trait Loci 由 Enrico Petretto, Jonathan Mangion, Nicholas J. Dickens, Stuart A. Cook, Mande K. Kumaran, Lu Han, Judith Fischer, Henrike Maatz, Vladimı́r Křen, Michal Pravenec, Norbert Hübner, Timothy J. Aitman

    出版 2006
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  18. 18
    PNPLA1 Deficiency in Mice and Humans Leads to a Defect in the Synthesis of Omega-O-Acylceramides

    PNPLA1 Deficiency in Mice and Humans Leads to a Defect in the Synthesis of Omega-O-Acylceramides 由 Susanne Grond, Thomas O. Eichmann, Sandrine Dubrac, Dagmar Kolb, Matthias Schmuth, Judith Fischer, Debra Crumrine, Peter M. Elias, Guenter Haemmerle, Rudolf Zechner, Achim Lass, Franz P.W. Radner

    出版 2016
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  19. 19
    Defining the Adult Neural Stem Cell Niche Proteome Identifies Key Regulators of Adult Neurogenesis

    Defining the Adult Neural Stem Cell Niche Proteome Identifies Key Regulators of Adult Neurogenesis 由 Jacob Kjell, Judith Fischer, Amelia J. Thompson, Christian Friess, Matthew J. Sticco, Favio Salinas, Jürgen Cox, David C. Martinelli, Jovica Ninkovic, Kristian Franze, Herbert B. Schiller, Magdalena Götz

    出版 2020
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  20. 20
    Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans

    Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans 由 Franz P.W. Radner, Slaheddine Marrakchi, Peter Kirchmeier, Gwang-Jin Kim, Florence Ribiérre, B. Kamoun, Leïla Abid, M. Leipoldt, H. Turki, W. Schempp, Roland Heilig, Mark Lathrop, Judith Fischer

    出版 2013
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