E-LIB Suche - Ergebnisse für: Dockery, Adrian

1

The Role of the Ophthalmic Genetics Multidisciplinary Team ..:

Conway, Marcus P. ; Stephenson, Kirk A. J. ; Zhu, Julia...
Life. 14 (2024) 1 - p. 107 , 2024

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

2

Variant reclassification and clinical implications:

Walsh, Nicola ; Cooper, Aislinn ; Dockery, Adrian.
Journal of Medical Genetics. , 2024

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

3

The Role of the Ophthalmic Genetics Multidisciplinary Team ..:

Marcus P. Conway ; Kirk A. J. Stephenson ; Julia Zhu...
https://www.mdpi.com/2075-1729/14/1/107. , 2024

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

4

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/..

5

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/..

6

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/..

7

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

Stephenson, Kirk A. J ; Whelan, Laura ; Zhu, Julia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10362925/. , 2023

Link: http://www.ncbi.nlm.nih...

8

Whole genome sequencing for USH2A-associated disease reveal..:

Reurink, Janine ; Weisschuh, Nicole ; Garanto, Alejandro...
https://research.rug.nl/en/publications/33968473-8cf1-49e9-85da-4089312f325a. , 2023

Link: https://hdl.handle.net/1..

9

Whole genome sequencing for USH2A-associated disease reveal..:

Reurink, Janine ; Weisschuh, Nicole ; Garanto, Alejandro...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9918427/. , 2023

Link: http://www.ncbi.nlm.nih...

10

Whole genome sequencing for USH2A-associated disease reveal..:

Reurink, Janine ; Weisschuh, Nicole ; Garanto, Alejandro...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.xhgg.2023.100181. , 2023

Link: https://hdl.handle.net/2..

11

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

Laura Whelan ; Adrian Dockery ; Kirk A. J. Stephenson...
https://doi.org/10.1038/s41598-023-35889-9. , 2023

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

12

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

Whelan, Laura ; Dockery, Adrian ; Stephenson, Kirk A. J...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10256698/. , 2023

Link: http://www.ncbi.nlm.nih...

13

Whole genome sequencing for USH2A-associated disease reveal..:

Janine Reurink ; Nicole Weisschuh ; Alejandro Garanto...
http://www.sciencedirect.com/science/article/pii/S2666247723000131. , 2023

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

14

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/..

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/..