Search Results - John Neidhardt

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  1. 1
    The molecular basis of human retinal and vitreoretinal diseases

    The molecular basis of human retinal and vitreoretinal diseases by Wolfgang Berger, Barbara Kloeckener‐Gruissem, John Neidhardt

    Published 2010
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  2. 2
    Gene Therapeutic Approach Using Mutation-adapted U1 snRNA to Correct a RPGR Splice Defect in Patient-derived Cells

    Gene Therapeutic Approach Using Mutation-adapted U1 snRNA to Correct a RPGR Splice Defect in Patient-derived Cells by Esther Glaus, F Schmid, Romain Da Costa, Wolfgang Berger, John Neidhardt

    Published 2011
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  3. 3
    <i>ABCA4</i>and<i>ROM1:</i>Implications for Modification of the<i>PRPH2</i>-Associated Macular Dystrophy Phenotype

    <i>ABCA4</i>and<i>ROM1:</i>Implications for Modification of the<i>PRPH2</i>-Associated Macular Dystrophy Phenotype by Charlotte M. Poloschek, Michael Bach, Wolf A. Lagrèze, Esther Glaus, Johannes R. Lemke, Wolfgang Berger, John Neidhardt

    Published 2010
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  4. 4
    Mutation of Solute Carrier SLC16A12 Associates with a Syndrome Combining Juvenile Cataract with Microcornea and Renal Glucosuria

    Mutation of Solute Carrier SLC16A12 Associates with a Syndrome Combining Juvenile Cataract with Microcornea and Renal Glucosuria by Barbara Kloeckener‐Gruissem, Kristof Vandekerckhove, Gudrun Nürnberg, John Neidhardt, Christina Zeitz, Peter Nürnberg, Isaak Schipper, Wolfgang Berger

    Published 2008
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  5. 5
    U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation

    U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation by F Schmid, Esther Glaus, Daniel Barthelmes, Manfred Fliegauf, Harald Gaspar, Gudrun Nürnberg, Peter Nürnberg, Heymut Omran, Wolfgang Berger, John Neidhardt

    Published 2011
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  6. 6
    Mutation in the Auxiliary Calcium-Channel Subunit CACNA2D4 Causes Autosomal Recessive Cone Dystrophy

    Mutation in the Auxiliary Calcium-Channel Subunit CACNA2D4 Causes Autosomal Recessive Cone Dystrophy by Katharina Agnes Wycisk, Christina Zeitz, Silke Feil, Mariana Wittmer, U. Förster, John Neidhardt, Bernd Wissinger, Eberhart Zrenner, Robert Wilke, Susanne Kohl, Wolfgang Berger

    Published 2006
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  7. 7
    Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies

    Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies by Amit K. Tiwari, Angela Bahr, Luzy Bähr, Johannes Fleischhauer, Martin S. Zinkernagel, N. Winkler, Daniel Barthelmes, Lieselotte Berger, Christina Gerth‐Kahlert, John Neidhardt, Wolfgang Berger

    Published 2016
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  8. 8
    The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter

    The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter by Jeannette Abplanalp, Endre Laczkó, Nancy J. Philp, John Neidhardt, Jurian Zuercher, Philipp Braun, Daniel F. Schorderet, Francis L. Munier, François Verrey, Wolfgang Berger, Simone M. R. Camargo, Barbara Kloeckener‐Gruissem

    Published 2013
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  9. 9
    Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies

    Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies by Nicola Glöckle, Susanne Kohl, Julia Mohr, Tim Scheurenbrand, Andrea Sprecher, Nicole Weisschuh, Antje Bernd, Günther Rudolph, Max Schubach, Charlotte M. Poloschek, Eberhart Zrenner, Saskia Biskup, Wolfgang Berger, Bernd Wissinger, John Neidhardt

    Published 2013
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  10. 10
    Dominant optic atrophy: Culprit mitochondria in the optic nerve

    Dominant optic atrophy: Culprit mitochondria in the optic nerve by Guy Lenaers, Albert Neutzner, Yannick Le Dantec, Christoph Jüschke, Ting Xiao, Sarah Decembrini, Sebastian Swirski, Sinja Kieninger, Cavit Ağca, Ungsoo Samuel Kim, Pascal Reynier, Patrick Yu‐Wai‐Man, John Neidhardt, Bernd Wissinger

    Published 2020
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  11. 11
    <i>GRIN2B</i> mutations in west syndrome and intellectual disability with focal epilepsy

    <i>GRIN2B</i> mutations in west syndrome and intellectual disability with focal epilepsy by Johannes R. Lemke, Rik Hendrickx, Kirsten Geider, Bodo Laube, Michael Schwake, Victoria L. Harvey, Victoria M. James, Alex Pepler, Isabelle Steiner, Konstanze Hörtnagel, John Neidhardt, Susanne Ruf, Markus Wolff, Deborah Bartholdi, Roberto Caraballo, Konrad Platzer, Arvid Suls, Peter De Jonghe, Saskia Biskup, Sarah Weckhuysen

    Published 2013
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