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Wissinger, Bernd
347  Ergebnisse:
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1

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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2

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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3

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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4

Genetic background modulates phenotypic expressivity in OPA..:

Atamena, Djamaa ; Gurram, Venu ; Petsophonsakul, Petnoï...
Frontiers in Molecular Neuroscience.  16 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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5

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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6

Diagnostic genome sequencing improves diagnostic yield: a p..:

Weisschuh, Nicole ; Mazzola, Pascale ; Zuleger, Theresia...
Journal of Medical Genetics.  61 (2023)  2 - p. 186-195 , 2023
Link: https://doi.org/10.1136/..
 
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7

Extra-viral DNA in adeno-associated viral vector preparatio..:

Bucher, Kirsten ; Rodríguez-Bocanegra, Eduardo ; Wissinger, Bernd...
Scientific Reports.  13 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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8

In Vivo Efficacy and Safety Evaluations of Therapeutic Spli..:

Swirski, Sebastian ; May, Oliver ; Ahlers, Malte...
Cells.  12 (2023)  6 - p. 955 , 2023
Link: https://doi.org/10.3390/..
 
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9

Functional evaluation allows ACMG/AMP-based re-classificati..:

Solaki, Maria ; Wissinger, Bernd ; Kohl, Susanne.
Genetics in Medicine.  25 (2023)  12 - p. 100979 , 2023
Link: https://doi.org/10.1016/..
 
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10

Central Visual Function and Genotype–Phenotype Correlations..:

Kuehlewein, Laura ; Straßer, Torsten ; Blumenstock, Gunnar...
Investigative Opthalmology & Visual Science.  63 (2022)  5 - p. 9 , 2022
Link: https://doi.org/10.1167/..
 
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11

Effective splicing restoration of a deep-intronic ABCA4 var..:

De Angeli, Pietro ; Reuter, Peggy ; Hauser, Stefan...
Molecular Therapy - Nucleic Acids.  29 (2022)  - p. 511-524 , 2022
Link: https://doi.org/10.1016/..
 
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12

The landscape of submicroscopic structural variants at theO..:

Wissinger, Bernd ; Baumann, Britta ; Buena-Atienza, Elena...
Proceedings of the National Academy of Sciences.  119 (2022)  27 - p. , 2022
Link: https://doi.org/10.1073/..
 
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13

Corrigendum to "Splicing mutations in inherited retinal dis..:

Weisschuh, Nicole ; Buena-Atienza, Elena ; Wissinger, Bernd
Progress in Retinal and Eye Research.  88 (2022)  - p. 101019 , 2022
Link: https://doi.org/10.1016/..
 
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14

Genome-Wide Association Study Identifies Two Common Loci As..:

Simcoe, Mark J. ; Shah, Ameet ; Fan, Baojian...
Ophthalmology.  129 (2022)  6 - p. 626-636 , 2022
Link: https://doi.org/10.1016/..
 
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15

Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Ph..:

Magrinelli, Francesca ; Cali, Elisa ; Braga, Vinícius Lopes...
Movement Disorders Clinical Practice.  9 (2022)  2 - p. 218-228 , 2022
Link: https://doi.org/10.1002/..
 
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