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Kohl, Susanne
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1

Splicing defects and CRISPR-Cas9 correction in isogenic hom..:

De Angeli, Pietro ; Flores-Tufiño, Arturo ; Stingl, Katarina...
Molecular Therapy - Nucleic Acids.  35 (2024)  1 - p. 102113 , 2024
Link: https://doi.org/10.1016/..
 
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2

S-cone contribution to oscillatory potentials in patients w..:

Righetti, Giulia ; Kempf, Melanie ; Kohl, Susanne...
Documenta Ophthalmologica.  149 (2024)  1 - p. 11-21 , 2024
Link: https://doi.org/10.1007/..
 
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3

Comprehensive analysis of two hotspot codons in the TUBB4B ..:

Bodenbender, Jan-Philipp ; Marino, Valerio ; Philipp, Julia...
Scientific Reports.  14 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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4

Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene c..:

Wissinger, Bernd ; Baumann, Britta ; Buena-Atienza, Elena..
npj Genomic Medicine.  9 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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5

Clinical and Genetic Findings in a Cohort of Patients with ..:

Bodenbender, Jan-Philipp ; Bethge, Leon ; Stingl, Katarina...
American Journal of Ophthalmology.  , 2024
Link: https://doi.org/10.1016/..
 
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6

Adaptive optics retinal imaging in patients with usher synd..:

Kempf, Melanie ; Kohl, Susanne ; Stingl, Krunoslav...
Frontiers in Ophthalmology.  4 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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7

Color Vision in Blue Cone Monochromacy: Outcome Measures fo..:

Mascio, Abraham A. ; Roman, Alejandro J. ; Cideciyan, Artur V....
Translational Vision Science & Technology.  12 (2023)  1 - p. 25 , 2023
Link: https://doi.org/10.1167/..
 
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8

Frequency-dependent retinal responsiveness to sinusoidal el..:

Jung, Ronja ; Kempf, Melanie ; Pohl, Lisa...
Experimental Eye Research.  226 (2023)  - p. 109349 , 2023
Link: https://doi.org/10.1016/..
 
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9

Whole genome sequencing for USH2A-associated disease reveal..:

Reurink, Janine ; Weisschuh, Nicole ; Garanto, Alejandro...
Human Genetics and Genomics Advances.  4 (2023)  2 - p. 100181 , 2023
Link: https://doi.org/10.1016/..
 
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10

Genetic and Clinical Profile of Retinopathies Due to Diseas..:

Zobor, Ditta ; Brühwiler, Britta ; Zrenner, Eberhart..
International Journal of Molecular Sciences.  24 (2023)  10 - p. 8915 , 2023
Link: https://doi.org/10.3390/..
 
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11

Biallelic Variants in TULP1 Are Associated with Heterogeneo..:

Bodenbender, Jan-Philipp ; Marino, Valerio ; Bethge, Leon...
International Journal of Molecular Sciences.  24 (2023)  3 - p. 2709 , 2023
Link: https://doi.org/10.3390/..
 
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12

Genetic and Clinical Characterization of Danish Achromatops..:

Andersen, Mette Kjøbæk Gundestrup ; Bertelsen, Mette ; Grønskov, Karen..
Genes.  14 (2023)  3 - p. 690 , 2023
Link: https://doi.org/10.3390/..
 
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13

The Usher syndrome 1C protein harmonin regulates canonical ..:

Schäfer, Jessica ; Wenck, Nicole ; Janik, Katharina...
Frontiers in Cell and Developmental Biology.  11 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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14

Rod and Cone Function Measured Objectively by Chromatic Pup..:

Kelbsch, Carina ; Kempf, Melanie ; Jung, Ronja...
Investigative Opthalmology & Visual Science.  64 (2023)  11 - p. 18 , 2023
Link: https://doi.org/10.1167/..
 
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15

Systematic analysis of CNGA3 splice variants identifies dif..:

Reuter, Peggy ; Walter, Magdalena ; Kohl, Susanne.
Scientific Reports.  13 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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