检索结果 - Ulrich Kellner

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  1. 1
    Spectral domain optical coherence tomography detects early stages of chloroquine retinopathy similar to multifocal electroretinography, fundus autofluorescence and near-infrared autofluorescence

    Spectral domain optical coherence tomography detects early stages of chloroquine retinopathy similar to multifocal electroretinography, fundus autofluorescence and near-infrared au... 由 S. Kellner, Silke Weinitz, Ulrich Kellner

    出版 2009
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  2. 2
    Fundus Autofluorescence and mfERG for Early Detection of Retinal Alterations in Patients Using Chloroquine/Hydroxychloroquine

    Fundus Autofluorescence and mfERG for Early Detection of Retinal Alterations in Patients Using Chloroquine/Hydroxychloroquine 由 Ulrich Kellner, Agnes B. Renner, H. Tillack

    出版 2006
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  3. 3
    X-linked juvenile retinoschisis: Clinical diagnosis, genetic analysis, and molecular mechanisms

    X-linked juvenile retinoschisis: Clinical diagnosis, genetic analysis, and molecular mechanisms 由 Robert S. Molday, Ulrich Kellner, Bernhard H. F. Weber

    出版 2012
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  4. 4
    Lipofuscin- and melanin-related fundus autofluorescence visualize different retinal pigment epithelial alterations in patients with retinitis pigmentosa

    Lipofuscin- and melanin-related fundus autofluorescence visualize different retinal pigment epithelial alterations in patients with retinitis pigmentosa 由 Ulrich Kellner, S. Kellner, Bernhard H. F. Weber, Britta Fiebig, Silke Weinitz, Klaus Rüether

    出版 2008
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  5. 5
    Recommendations on Screening for Chloroquine and Hydroxychloroquine Retinopathy (2016 Revision)

    Recommendations on Screening for Chloroquine and Hydroxychloroquine Retinopathy (2016 Revision) 由 Michael F. Marmor, Ulrich Kellner, Timothy Y. Y. Lai, Ronald B. Melles, William F. Mieler

    出版 2016
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  6. 6
    Patient-Reported Social Impact of Molecularly Confirmed Retinitis Pigmentosa

    Patient-Reported Social Impact of Molecularly Confirmed Retinitis Pigmentosa 由 Nina Zehe-Lindau, Birgit Lindau, Heidi Stöhr, Bernhard H. F. Weber, Georg Spital, Ulrich Kellner

    出版 2025
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  7. 7
    Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia

    Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia 由 Susanne Kohl, Britta Baumann, Thomas Rosenberg, Ulrich Kellner, Birgit Lorenz, Maria Vadalà, Samuel G. Jacobson, Bernd Wissinger

    出版 2002
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  8. 8
    Mutation Analysis Identifies<i>GUCY2D</i>as the Major Gene Responsible for Autosomal Dominant Progressive Cone Degeneration

    Mutation Analysis Identifies<i>GUCY2D</i>as the Major Gene Responsible for Autosomal Dominant Progressive Cone Degeneration 由 Veronique Kitiratschky, Robert Wilke, Agnes B. Renner, Ulrich Kellner, Maria Vadalà, David G. Birch, Bernd Wissinger, Eberhart Zrenner, Susanne Kohl

    出版 2008
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  9. 9
    Mutations in the<i>GUCA1A</i>gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase

    Mutations in the<i>GUCA1A</i>gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase 由 Veronique Kitiratschky, Petra Behnen, Ulrich Kellner, John R. Heckenlively, Eberhart Zrenner, Herbert Jägle, Susanne Kohl, Bernd Wissinger, Karl‐Wilhelm Koch

    出版 2009
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  10. 10
    MORPHOLOGY AND FUNCTIONAL CHARACTERISTICS IN ADULT VITELLIFORM MACULAR DYSTROPHY

    MORPHOLOGY AND FUNCTIONAL CHARACTERISTICS IN ADULT VITELLIFORM MACULAR DYSTROPHY 由 Agnes B. Renner, H. Tillack, Hannelore Kraus, Susanne Kohl, Bernd Wissinger, Nicole Mohr, Bernhard H. F. Weber, Ulrich Kellner, Michael Foerster

    出版 2004
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  11. 11
    Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21

    Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21 由 Susanne Kohl, Britta Baumann, Martina Broghammer, Herbert Jägle, Paul A. Sieving, Ulrich Kellner, Robert Spegal, M. Anastasi, E. Zrenner, Lindsay T. Sharpe, Bernd Wissinger

    出版 2000
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  12. 12
    The Clinical Phenotype of <i>CNGA3</i>-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial

    The Clinical Phenotype of <i>CNGA3</i>-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial 由 Ditta Zobor, Annette Werner, Franco Stanzial, Francesco Benedicenti, Günther Rudolph, Ulrich Kellner, Christian Hamel, Sten Andréasson, Gergely Zobor, Torsten Straßer, Bernd Wissinger, Susanne Kohl, Eberhart Zrenner

    出版 2017
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  13. 13
    Mutation Spectrum of the <i>ABCA4</i> Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort—Impact of Selected Deep Intronic Variants and Common SNPs

    Mutation Spectrum of the <i>ABCA4</i> Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort—Impact of Selected Deep Intronic Variants and Common SNPs 由 H.L. Schulz, Felix Graßmann, Ulrich Kellner, Georg Spital, Klaus Rüther, Herbert Jägle, Karsten Hufendiek, Philipp Rating, Cord Huchzermeyer, Maria J. Baier, Bernhard H. F. Weber, Heidi Stöhr

    出版 2017
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  14. 14
    ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies

    ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies 由 Veronique Kitiratschky, Tanja Grau, Antje Bernd, Eberhart Zrenner, Herbert Jägle, Agnes B. Renner, Ulrich Kellner, Günther Rudolph, Samuel G. Jacobson, Artur V. Cideciyan, Simone Schaich, Susanne Kohl, Bernd Wissinger

    出版 2008
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  15. 15
    Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration

    Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degen... 由 Franziska Krämer, Karen L. White, Daniel Pauleikhoff, Andrea Gehrig, Lori A. Passmore, Andrea Rivera, Günther Rudolph, Ulrich Kellner, Monika Andrassi, Birgit Lorenz, Klaus Rohrschneider, A. Blankenagel, Bernhard Jurklies, H Schilling, F. Schütt, Frank G. Holz, Bernhard H. F. Weber

    出版 2000
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  16. 16
    CRB1 mutation spectrum in inherited retinal dystrophies

    CRB1 mutation spectrum in inherited retinal dystrophies 由 Anneke I. den Hollander, Jason A. Davis, Saskia D. van der Velde-Visser, Marijke N. Zonneveld, Chiara O. Pierrottet, Robert K. Koenekoop, Ulrich Kellner, L. Ingeborgh van den Born, John R. Heckenlively, Carel B. Hoyng, Penny A. Handford, Ronald Roepman, Frans P.M. Cremers

    出版 2004
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  17. 17
    Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

    Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing 由 Nicole Weisschuh, Anja K. Mayer, Tim M. Strom, Susanne Kohl, Nicola Glöckle, Max Schubach, Sten Andréasson, Antje Bernd, David G. Birch, Christian P. Hamel, John R. Heckenlively, Samuel G. Jacobson, C. Kamme, Ulrich Kellner, Erdmute Kunstmann, Pietro Maffei, Charlotte Reiff, Klaus Rohrschneider, Thomas Rosenberg, Günther Rudolph, Rita Vámos, Balázs Varsányi, Richard G. Weleber, Bernd Wissinger

    出版 2016
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  18. 18
    Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy

    Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy 由 Camille Piro-Mégy, Emmanuelle Sarzi, Aleix Tarrés-Solé, Marie O. Péquignot, Fenna Hensen, Mélanie Quilès, Gaël Manès, Arka Chakraborty, Audrey Sénéćhal, Béatrice Bocquet, Chantal Cazevieille, Agathe Roubertie, Agnès Müller, Majida Charif, David Goudenège, Guy Lenaers, Helmut Wilhelm, Ulrich Kellner, Nicole Weisschuh, Bernd Wissinger, Xavier Zanlonghi, Christian Hamel, Johannes N. Spelbrink, Marı́a Solà, Cécile Delettre

    出版 2019
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  19. 19
    Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene

    Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene 由 Anneke I. den Hollander, John R. Heckenlively, L. Ingeborgh van den Born, Yvette J.M. de Kok, Saskia D. van der Velde-Visser, Ulrich Kellner, Bernhard Jurklies, Mary J. van Schooneveld, A. Blankenagel, Klaus Rohrschneider, Bernd Wissinger, J.R.M. Cruysberg, August F. Deutman, Han G. Brunner, Eckart Apfelstedt-Sylla, Carel B. Hoyng, Frans P.M. Cremers

    出版 2001
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  20. 20
    Microarray-Based Mutation Detection and Phenotypic Characterization of Patients with Leber Congenital Amaurosis

    Microarray-Based Mutation Detection and Phenotypic Characterization of Patients with Leber Congenital Amaurosis 由 Suzanne Yzer, Bart P. Leroy, Elfride De Baere, Thomy de Ravel, Marijke N. Zonneveld, Krysta Voesenek, Ulrich Kellner, José P. Martinez Ciriano, Jan-Tjeerd H.N. de Faber, Klaus Rohrschneider, Ronald Roepman, Anneke I. den Hollander, J.R.M. Cruysberg, Franc ̧oise Meire, Ingele Casteels, Norka G. van Moll-Ramirez, Rando Allikmets, L. Ingeborgh van den Born, Frans P.M. Cremers

    出版 2006
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