Hasil Pencarian - Bernd Wissinger

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  1. 1
    Simultaneous Detection of Multiple Point Mutations Using Fluorescence-Coupled Competitive Primer Extension

    Simultaneous Detection of Multiple Point Mutations Using Fluorescence-Coupled Competitive Primer Extension oleh Sascha Fauser, Bernd Wissinger

    Diterbitkan 1997-05-01
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  2. 2
    A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report

    A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report oleh Elena Buena-Atienza, Fadi Nasser, Susanne Kohl, Bernd Wissinger

    Diterbitkan 2018-06-01
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  3. 3
    Rod and cone function in patients with KCNV2 retinopathy.

    Rod and cone function in patients with KCNV2 retinopathy. oleh Ditta Zobor, Susanne Kohl, Bernd Wissinger, Eberhart Zrenner, Herbert Jägle

    Diterbitkan 2012-01-01
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  4. 4
    Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects

    Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects oleh Bernd Wissinger, Britta Baumann, Elena Buena-Atienza, Caspar Gross, Susanne Kohl

    Diterbitkan 2024-05-01
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  5. 5
    In Vivo Efficacy and Safety Evaluations of Therapeutic Splicing Correction Using U1 snRNA in the Mouse Retina

    In Vivo Efficacy and Safety Evaluations of Therapeutic Splicing Correction Using U1 snRNA in the Mouse Retina oleh Sebastian Swirski, Oliver May, Malte Ahlers, Bernd Wissinger, Martin Greschner, Christoph Jüschke, John Neidhardt

    Diterbitkan 2023-03-01
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  6. 6
    First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy – a case report

    First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy – a case report oleh Nicole Weisschuh, Pascale Mazzola, Tilman Heinrich, Tobias Haack, Bernd Wissinger, Felix Tonagel, Carina Kelbsch

    Diterbitkan 2020-11-01
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  7. 7
    Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption

    Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption oleh Christoph Jüschke, Thomas Klopstock, Claudia B. Catarino, Marta Owczarek-Lipska, Bernd Wissinger, John Neidhardt

    Diterbitkan 2021-12-01
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  8. 8
    Effective splicing restoration of a deep-intronic ABCA4 variant in cone photoreceptor precursor cells by CRISPR/SpCas9 approaches

    Effective splicing restoration of a deep-intronic ABCA4 variant in cone photoreceptor precursor cells by CRISPR/SpCas9 approaches oleh Pietro De Angeli, Peggy Reuter, Stefan Hauser, Ludger Schöls, Katarina Stingl, Bernd Wissinger, Susanne Kohl

    Diterbitkan 2022-09-01
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  9. 9
    Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1

    Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1 oleh Tobias Bonifert, Irene Gonzalez Menendez, Florian Battke, Yvonne Theurer, Matthis Synofzik, Ludger Schöls, Bernd Wissinger

    Diterbitkan 2016-01-01
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  10. 10
    Clinical Characteristics of <i>POC1B</i>-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants

    Clinical Characteristics of <i>POC1B</i>-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants oleh Nicole Weisschuh, Pascale Mazzola, Miriam Bertrand, Tobias B. Haack, Bernd Wissinger, Susanne Kohl, Katarina Stingl

    Diterbitkan 2021-05-01
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  11. 11
    Splicing defects and CRISPR-Cas9 correction in isogenic homozygous photoreceptor precursors harboring clustered deep-intronic ABCA4 variants

    Splicing defects and CRISPR-Cas9 correction in isogenic homozygous photoreceptor precursors harboring clustered deep-intronic ABCA4 variants oleh Pietro De Angeli, Arturo Flores-Tufiño, Katarina Stingl, Laura Kühlewein, Eleonora Roschi, Bernd Wissinger, Susanne Kohl

    Diterbitkan 2024-03-01
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  12. 12
    X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in <i>RPGR</i>

    X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in <i>RPGR</i> oleh Friederike Kortüm, Sinja Kieninger, Pascale Mazzola, Susanne Kohl, Bernd Wissinger, Holger Prokisch, Katarina Stingl, Nicole Weisschuh

    Diterbitkan 2021-01-01
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  13. 13
    Foveal Therapy in Blue Cone Monochromacy: Predictions of Visual Potential From Artificial Intelligence

    Foveal Therapy in Blue Cone Monochromacy: Predictions of Visual Potential From Artificial Intelligence oleh Alexander Sumaroka, Artur V. Cideciyan, Rebecca Sheplock, Vivian Wu, Susanne Kohl, Bernd Wissinger, Samuel G. Jacobson

    Diterbitkan 2020-08-01
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  14. 14
    Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports

    Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports oleh Katja Kloth, Matthis Synofzik, Christoph Kernstock, Simone Schimpf-Linzenbold, Frank Schuettauf, Axel Neu, Bernd Wissinger, Nicole Weisschuh

    Diterbitkan 2019-04-01
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  15. 15
    Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis.

    Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis. oleh Nicole Weisschuh, Britta Feldhaus, Muhammad Imran Khan, Frans P M Cremers, Susanne Kohl, Bernd Wissinger, Ditta Zobor

    Diterbitkan 2018-01-01
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  16. 16
    Oscillatory Potentials in Achromatopsia as a Tool for Understanding Cone Retinal Functions

    Oscillatory Potentials in Achromatopsia as a Tool for Understanding Cone Retinal Functions oleh Giulia Righetti, Melanie Kempf, Christoph Braun, Ronja Jung, Susanne Kohl, Bernd Wissinger, Eberhart Zrenner, Katarina Stingl, Krunoslav Stingl

    Diterbitkan 2021-11-01
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  17. 17
    Gene and Protein Expression in Subjects With a Nystagmus-Associated AHR Mutation

    Gene and Protein Expression in Subjects With a Nystagmus-Associated AHR Mutation oleh Natalia Borovok, Celeste Weiss, Rajech Sharkia, Rajech Sharkia, Michal Reichenstein, Bernd Wissinger, Abdussalam Azem, Muhammad Mahajnah, Muhammad Mahajnah

    Diterbitkan 2020-09-01
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  18. 18
    Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with <i>CNGA3</i>-Associated Autosomal Recessive Achromatopsia

    Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with <i>CNGA3</i>-Associated Autosomal Recessive Achromatopsia oleh Susanne Kohl, Britta Baumann, Francesca Dassie, Anja K. Mayer, Maria Solaki, Peggy Reuter, Laura Kühlewein, Bernd Wissinger, Pietro Maffei

    Diterbitkan 2021-07-01
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  19. 19
    Genetic background modulates phenotypic expressivity in OPA1 mutated mice, relevance to DOA pathogenesis

    Genetic background modulates phenotypic expressivity in OPA1 mutated mice, relevance to DOA pathogenesis oleh Djamaa Atamena, Venu Gurram, Petnoï Petsophonsakul, Farnoosh Khosrobakhsh, Farnoosh Khosrobakhsh, Macarena S. Arrázola, Marlène Botella, Bernd Wissinger, Marion Szelechowski, Pascale Belenguer

    Diterbitkan 2023-09-01
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  20. 20
    Extra-viral DNA in adeno-associated viral vector preparations induces TLR9-dependent innate immune responses in human plasmacytoid dendritic cells

    Extra-viral DNA in adeno-associated viral vector preparations induces TLR9-dependent innate immune responses in human plasmacytoid dendritic cells oleh Kirsten Bucher, Eduardo Rodríguez-Bocanegra, Bernd Wissinger, Torsten Strasser, Simon J. Clark, Andreas L. Birkenfeld, Dorothea Siegel-Axel, M. Dominik Fischer

    Diterbitkan 2023-02-01
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