E-LIB Suche - Ergebnisse für: Wissinger, Bernd

1

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/..

2

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/..

3

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/..

4

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/..

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/..

6

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/..

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/..

8

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/..

9

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/..

10

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/..

11

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/..

12

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/..

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/..

14

DNAJC30 disease-causing gene variants in a large Central Eu..:

Kieninger, Sinja ; Xiao, Ting ; Weisschuh, Nicole...
Journal of Medical Genetics. 59 (2022) 10 - p. 1027-1034 , 2022

Link: https://doi.org/10.1136/..

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/..