Resultats de la cerca - Birgit Lorenz

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  1. 1
    Wide-field digital imaging based telemedicine for screening for acute retinopathy of prematurity (ROP). Six-year results of a multicentre field study

    Wide-field digital imaging based telemedicine for screening for acute retinopathy of prematurity (ROP). Six-year results of a multicentre field study per Birgit Lorenz, Katerina Spasovska, Heike M. Elflein, Nico Schneider

    Publicat 2009
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  2. 2
    A Comprehensive Clinical and Biochemical Functional Study of a Novel<i>RPE65</i>Hypomorphic Mutation

    A Comprehensive Clinical and Biochemical Functional Study of a Novel<i>RPE65</i>Hypomorphic Mutation per Birgit Lorenz, Eugenia Poliakov, Maria Schambeck, Christoph Friedburg, Markus N. Preising, T. Michael Redmond

    Publicat 2008
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  3. 3
    Fundus Albipunctatus Associated with Compound Heterozygous Mutations in RPE65

    Fundus Albipunctatus Associated with Compound Heterozygous Mutations in RPE65 per Patrik Schatz, Markus N. Preising, Birgit Lorenz, Birgit Sander, Michael Larsen, Thomas Rosenberg

    Publicat 2011
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  4. 4
    Constitutional RB1-Gene Mutations in Patients with Isolated Unilateral Retinoblastoma

    Constitutional RB1-Gene Mutations in Patients with Isolated Unilateral Retinoblastoma per Dietmar Lohmann, Martin Gerick, Birgit Brandt, Ulrich Oelschläger, Birgit Lorenz, Eberhard Passarge, Bernhard Horsthemke

    Publicat 1997
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  5. 5
    OCT-Based Macular Structure–Function Correlation in Dependence on Birth Weight and Gestational Age—the Giessen Long-Term ROP Study

    OCT-Based Macular Structure–Function Correlation in Dependence on Birth Weight and Gestational Age—the Giessen Long-Term ROP Study per Wadim Bowl, Knut Stieger, Magdalena Bokun, Silke Schweinfurth, Kerstin Holve, Monika Andrassi-Darida, Birgit Lorenz

    Publicat 2016
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  6. 6
    In vivo genome editing as a potential treatment strategy for inherited retinal dystrophies

    In vivo genome editing as a potential treatment strategy for inherited retinal dystrophies per Mert Yanik, Brigitte Müller, Fei Song, J. Gáll, Franziska Wagner, Wolfgang Wende, Birgit Lorenz, Knut Stieger

    Publicat 2016
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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 per Susanne Kohl, Britta Baumann, Thomas Rosenberg, Ulrich Kellner, Birgit Lorenz, Maria Vadalà, Samuel G. Jacobson, Bernd Wissinger

    Publicat 2002
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  8. 8
    Functional Antibodies Targeting IsaA of <i>Staphylococcus aureus</i> Augment Host Immune Response and Open New Perspectives for Antibacterial Therapy

    Functional Antibodies Targeting IsaA of <i>Staphylococcus aureus</i> Augment Host Immune Response and Open New Perspectives for Antibacterial Therapy per Udo Lorenz, Birgit Lorenz, Tim Schmitter, Karin Streker, Christian Erck, Jürgen Wehland, Joachim Nickel, Bastian Zimmermann, Knut Ohlsen

    Publicat 2010
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  9. 9
    Single Center Experience with Voretigene Neparvovec Gene Augmentation Therapy in RPE65 Mutation–Associated Inherited Retinal Degeneration in a Clinical Setting

    Single Center Experience with Voretigene Neparvovec Gene Augmentation Therapy in RPE65 Mutation–Associated Inherited Retinal Degeneration in a Clinical Setting per Birgit Lorenz, Sandrine H. Künzel, Markus N. Preising, Johanna P. Scholz, Petrus Chang, Frank G. Holz, Philipp Herrmann

    Publicat 2023
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  10. 10
    Virtual reality-based Harms tangent screen test for strabismus measurement

    Virtual reality-based Harms tangent screen test for strabismus measurement per Yaroslava Wenner, Johann Schneider, Timo Drisser, Yuande Yang, Thilo Demeter, Maria Fronius, Birgit Lorenz, Thomas Kohnen, Michael Müller, Jochen Triesch

    Publicat 2025
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  11. 11
    Deep Learning–Based SD-OCT Layer Segmentation Quantifies Outer Retina Changes in Patients With Biallelic RPE65 Mutations Undergoing Gene Therapy

    Deep Learning–Based SD-OCT Layer Segmentation Quantifies Outer Retina Changes in Patients With Biallelic RPE65 Mutations Undergoing Gene Therapy per German Pinedo-Diaz, Birgit Lorenz, Sandrine H. Künzel, Sarah Thiele, Susana Ortega Cisneros, Eduardo Bayro Corrochano, Frank G. Holz, Alexander Effland

    Publicat 2025
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  12. 12
    Detection of Intact rAAV Particles up to 6 Years After Successful Gene Transfer in the Retina of Dogs and Primates

    Detection of Intact rAAV Particles up to 6 Years After Successful Gene Transfer in the Retina of Dogs and Primates per Knut Stieger, Josef Schroeder, Nathalie Provost, Alexandra Mendes-Madeira, Brahim Belbellaa, Guylène Le Meur, Michel Weber, Jack‐Yves Deschamps, Birgit Lorenz, Philippe Moullier, Fabienne Rolling

    Publicat 2008
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  13. 13
    Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark

    Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark per Galuh Astuti, Mette Bertelsen, Markus N. Preising, Muhammad Ajmal, Birgit Lorenz, Sultana MH Faradz, Raheel Qamar, Rob W.J. Collin, Thomas Rosenberg, Frans P.M. Cremers

    Publicat 2015
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  14. 14
    A Comprehensive Survey of Sequence Variation in the ABCA4 (ABCR) Gene in Stargardt Disease and Age-Related Macular Degeneration

    A Comprehensive Survey of Sequence Variation in the ABCA4 (ABCR) Gene in Stargardt Disease and Age-Related Macular Degeneration per Andrea Rivera, Karen L. White, Heidi Stöhr, Klaus Steiner, Nadine Hemmrich, T. Grimm, Bernhard Jurklies, Birgit Lorenz, Hendrik P. N. Scholl, E Apfelstedt-Sylla, Bernhard H. F. Weber

    Publicat 2000
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  15. 15
    Role of<i>SOX2</i>Mutations in Human Hippocampal Malformations and Epilepsy

    Role of<i>SOX2</i>Mutations in Human Hippocampal Malformations and Epilepsy per Sanjay M. Sisodiya, Nicola Ragge, Gianpiero L. Cavalleri, Ann Hever, Birgit Lorenz, Adele Schneider, Kathleen A. Williamson, John Stevens, S. L. Free, Pamela J. Thompson, Veronica van Heyningen, David Fitzpatrick

    Publicat 2006
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  16. 16
    Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina

    Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina per Krisztina Wutz, Christian Sauer, Eberhart Zrenner, Birgit Lorenz, Tiina Alitalo, Martina Broghammer, Martin Hergersberg, Albert de la Chapelle, Bernhard H. F. Weber, Bernd Wissinger, Alfons Meindl, Carsten M. Pusch

    Publicat 2002
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  17. 17
    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... per 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

    Publicat 2000
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  18. 18
    Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening

    Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening per Barbara D′haene, Catia Attanasio, Diane Beysen, Josée Dostie, Edmond G. Lemire, Philippe Bouchard, Michael Field, Kristie Jones, Birgit Lorenz, Björn Menten, Karen Buysse, Filip Pattyn, Marc Friedli, Catherine Ucla, Colette Rossier, Carine Wyss, Frank Speleman, Anne De Paepe, Job Dekker, Stylianos E. Antonarakis, Elfride De Baere

    Publicat 2009
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  19. 19
    Biallelic mutation of human <i>SLC6A6</i> encoding the taurine transporter TAUT is linked to early retinal degeneration

    Biallelic mutation of human <i>SLC6A6</i> encoding the taurine transporter TAUT is linked to early retinal degeneration per Markus N. Preising, Boris Görg, Christoph Friedburg, Natalia Qvartskhava, Birgit Budde, Michele Bonus, Mohammad R. Toliat, Christopher Pfleger, Janine Altmüller, Diran Herebıan, Mila Beyer, Helge J. Zöllner, Hans‐Jörg Wittsack, Jörg Schaper, Dirk Klee, Ulrich Zechner, Peter Nürnberg, Jörg Schipper, Alfons Schnitzler, Holger Gohlke, Birgit Lorenz, Dieter Häussinger, Hanno J. Bolz

    Publicat 2019
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  20. 20
    The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene

    The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene per Daniel C. Chung, Mette Bertelsen, Birgit Lorenz, Mark E. Pennesi, Bart Leroy, Christian P. Hamel, Eric A. Pierce, Juliana Maria Ferraz Sallum, Michael Larsen, Knut Stieger, Markus N. Preising, Richard G. Weleber, Paul Yang, Emily Place, Emily Liu, Grace Schaefer, Julie DiStefano‐Pappas, Okan U. Elci, Sarah McCague, Jennifer Wellman, Katherine A. High, Kathleen Z. Reape

    Publicat 2018
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