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Farrar, G. Jane
613
results:
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english (592)
german (1)
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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/..
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4
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/..
?
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
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/..
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7
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/..
?
8
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/..
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9
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/..
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10
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/..
?
11
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/..
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12
MFRP-Associated Retinopathy and Nanophthalmos in Two Irish ..:
O'Connell, Ann
;
Zhu, Julia
;
Stephenson, Kirk A.J.
...
Case Reports in Ophthalmology. 13 (2022) 3 - p. 1015-1023 , 2022
Link:
https://doi.org/10.1159/..
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13
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/..
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14
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/..
?
15
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/..
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