E-LIB Suche - Ergebnisse für: Kohl, Susanne

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/..

2

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/..

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

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/..

5

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/..

6

KCNV2-associated retinopathy: genotype–phenotype correlatio..:

de Guimaraes, Thales A C ; Georgiou, Michalis ; Robson, Anthony G...
British Journal of Ophthalmology. , 2023

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

7

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/..

8

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/..

9

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/..

10

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/..

11

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/..

12

Therapy with voretigene neparvovec. How to measure success?:

Stingl, Krunoslav ; Kempf, Melanie ; Jung, Ronja...
Progress in Retinal and Eye Research. 92 (2023) - p. 101115 , 2023

Link: https://doi.org/10.1016/..

13

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/..

14

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/..

15

Achromatopsia—Visual Cortex Stability and Plasticity in the..:

Molz, Barbara ; Herbik, Anne ; Baseler, Heidi A....
Investigative Opthalmology & Visual Science. 64 (2023) 13 - p. 23 , 2023

Link: https://doi.org/10.1167/..