Hasil Pencarian - Susanne Kohl

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  1. 1
    Systematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicing

    Systematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicing oleh Peggy Reuter, Magdalena Walter, Susanne Kohl, Nicole Weisschuh

    Diterbitkan 2023-02-01
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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
    Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort

    Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort oleh Ditta Zobor, Britta Brühwiler, Eberhart Zrenner, Nicole Weisschuh, Susanne Kohl

    Diterbitkan 2023-05-01
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  5. 5
    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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  6. 6
    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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  7. 7
    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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  8. 8
    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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  9. 9
    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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  10. 10
    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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  11. 11
    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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  12. 12
    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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  13. 13
    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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  14. 14
    Adaptive optics retinal imaging in patients with usher syndrome

    Adaptive optics retinal imaging in patients with usher syndrome oleh Melanie Kempf, Melanie Kempf, Susanne Kohl, Krunoslav Stingl, Krunoslav Stingl, Fadi Nasser, Katarina Stingl, Katarina Stingl, Friederike C. Kortuem

    Diterbitkan 2024-05-01
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  15. 15
    The Usher syndrome 1C protein harmonin regulates canonical Wnt signaling

    The Usher syndrome 1C protein harmonin regulates canonical Wnt signaling oleh Jessica Schäfer, Nicole Wenck, Katharina Janik, Joshua Linnert, Katarina Stingl, Susanne Kohl, Kerstin Nagel-Wolfrum, Kerstin Nagel-Wolfrum, Uwe Wolfrum

    Diterbitkan 2023-02-01
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  16. 16
    CDHR1 mutations in retinal dystrophies

    CDHR1 mutations in retinal dystrophies oleh Katarina Stingl, Anja K. Mayer, Pablo Llavona, Lejla Mulahasanovic, Günther Rudolph, Samuel G. Jacobson, Eberhart Zrenner, Susanne Kohl, Bernd Wissinger, Nicole Weisschuh

    Diterbitkan 2017-08-01
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  17. 17
    Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy

    Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy oleh Jan-Philipp Bodenbender, Valerio Marino, Leon Bethge, Katarina Stingl, Tobias B. Haack, Saskia Biskup, Susanne Kohl, Laura Kühlewein, Daniele Dell’Orco, Nicole Weisschuh

    Diterbitkan 2023-01-01
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  18. 18
    Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.

    Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants. oleh Nicole Weisschuh, Simone Schimpf-Linzenbold, Pascale Mazzola, Sinja Kieninger, Ting Xiao, Ulrich Kellner, Teresa Neuhann, Carina Kelbsch, Felix Tonagel, Helmut Wilhelm, Susanne Kohl, Bernd Wissinger

    Diterbitkan 2021-01-01
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  19. 19
    Novel <i>OPN1LW/OPN1MW</i> Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction

    Novel <i>OPN1LW/OPN1MW</i> Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction oleh Katarina Stingl, Britta Baumann, Pietro De Angeli, Ajoy Vincent, Elise Héon, Monique Cordonnier, Elfriede De Baere, Salmo Raskin, Mario Teruo Sato, Naoye Shiokawa, Susanne Kohl, Bernd Wissinger

    Diterbitkan 2022-06-01
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  20. 20
    In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors.

    In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors. oleh Elvir Becirovic, Sybille Böhm, Ong Nam Phuong Nguyen, Lisa Maria Riedmayr, Mirja Annika Koch, Elisabeth Schulze, Susanne Kohl, Oliver Borsch, Tiago Santos-Ferreira, Marius Ader, Stylianos Michalakis, Martin Biel

    Diterbitkan 2016-01-01
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