E-LIB Suche - Ergebnisse für: Farrar, G. Jane

1

Towards Uncovering the Role of Incomplete Penetrance in Mac..:

Hitti-Malin, Rebekkah J. ; Panneman, Daan M. ; Corradi, Zelia...
Biomolecules. 14 (2024) 3 - p. 367 , 2024

Link: https://doi.org/10.3390/..

2

Optical genome mapping and revisiting short-read genome seq..:

de Bruijn, Suzanne E. ; Rodenburg, Kim ; Corominas, Jordi...
Genetics in Medicine. 25 (2023) 3 - p. 100345 , 2023

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

3

Usher Syndrome on the Island of Ireland: A Genotype-Phenoty..:

Stephenson, Kirk A. J. ; Whelan, Laura ; Zhu, Julia...
Investigative Opthalmology & Visual Science. 64 (2023) 10 - p. 23 , 2023

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

4

RPE-Directed Gene Therapy Improves Mitochondrial Function i..:

Millington-Ward, Sophia ; Chadderton, Naomi ; Finnegan, Laura K....
International Journal of Molecular Sciences. 24 (2023) 4 - p. 3847 , 2023

Link: https://doi.org/10.3390/..

5

Targeted sequencing and in vitro splice assays shed light o..:

Corradi, Zelia ; Khan, Mubeen ; Hitti-Malin, Rebekkah...
Human Genetics and Genomics Advances. 4 (2023) 4 - p. 100237 , 2023

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

6

Detailed analysis of an enriched deep intronic ABCA4 varian..:

Whelan, Laura ; Dockery, Adrian ; Stephenson, Kirk A. J....
Scientific Reports. 13 (2023) 1 - p. , 2023

Link: https://doi.org/10.1038/..

7

Optimisation of AAV-NDI1 Significantly Enhances Its Therape..:

Chadderton, Naomi ; Palfi, Arpad ; Maloney, Daniel M....
Pharmaceutics. 15 (2023) 2 - p. 322 , 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

Usher syndrome type IV: clinically and molecularly confirme..:

Velde, Hedwig M. ; Reurink, Janine ; Held, Sebastian...
Human Genetics. 141 (2022) 11 - p. 1723-1738 , 2022

Link: https://doi.org/10.1007/..

10

Using single molecule Molecular Inversion Probes as a cost‐..:

Hitti‐Malin, Rebekkah J. ; Dhaenens, Claire‐Marie ; Panneman, Daan M....
Human Mutation. 43 (2022) 12 - p. 2234-2250 , 2022

Link: https://doi.org/10.1002/..

11

SARM1 Ablation Is Protective and Preserves Spatial Vision i..:

Finnegan, Laura K. ; Chadderton, Naomi ; Kenna, Paul F....
International Journal of Molecular Sciences. 23 (2022) 3 - p. 1606 , 2022

Link: https://doi.org/10.3390/..

12

AAV‐mediated gene therapy improving mitochondrial function ..:

Millington‐Ward, Sophia ; Chadderton, Naomi ; Finnegan, Laura K....
Clinical and Translational Medicine. 12 (2022) 8 - p. , 2022

Link: https://doi.org/10.1002/..

13

Clinical and Genetic Re-Evaluation of Inherited Retinal Deg..:

Stephenson, Kirk A. J. ; Zhu, Julia ; Dockery, Adrian...
International Journal of Molecular Sciences. 23 (2022) 2 - p. 995 , 2022

Link: https://doi.org/10.3390/..

14

AAV-PHP.eB transduces both the inner and outer retina with ..:

Palfi, Arpad ; Chadderton, Naomi ; Millington-Ward, Sophia...
Molecular Therapy - Methods & Clinical Development. 25 (2022) - p. 236-249 , 2022

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

15

Electrophysiology-Guided Genetic Characterisation Maximises..:

Zhu, Julia ; Stephenson, Kirk A. J. ; Dockery, Adrian...
Genes. 13 (2022) 4 - p. 615 , 2022

Link: https://doi.org/10.3390/..