E-LIB Suche - Ergebnisse für: Dockery, Adrian

1

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..

2

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...

3

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..

4

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...

5

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...

6

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

Velde, Hedwig M ; Reurink, Janine ; Held, Sebastian...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9556359/. , 2022

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

7

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

Velde, Hedwig M ; Reurink, Janine ; Held, Sebastian...
https://freidok.uni-freiburg.de/data/225694. , 2022

Link: https://freidok.uni-frei..

8

MFRP-Associated Retinopathy and Nanophthalmos in Two Irish ..:

O'Connell, Ann ; Zhu, Julia ; Stephenson, Kirk A.J...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9808125/. , 2022

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

9

Pigmentary retinopathy masked by asymmetric acquired phenom..:

Green Sanderson, Kit ; Stephenson, Kirk A J ; Dockery, Adrian.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8562530/. , 2021

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

10

Next-Generation Sequencing Applications for Inherited Retin..:

Dockery, Adrian ; Whelan, Laura ; Humphries, Pete.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8198572/. , 2021

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

11

Target 5000: a standardized all-Ireland pathway for the dia..:

Stephenson, Kirk A. J ; Zhu, Julia ; Wynne, Niamh...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8097252/. , 2021

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

12

Whole genome sequencing and in vitro splice assays reveal g..:

Fadaie, Zeinab ; Whelan, Laura ; Ben-Yosef, Tamar...
Fadaie , Z , Whelan , L , Ben-Yosef , T , Dockery , A , Corradi , Z , Gilissen , C , Haer-Wigman , L , Corominas , J , Astuti , G D N , de Rooij , L , van den Born , L I , Klaver , C C W , Hoyng , C B , Wynne , N , Duignan , E S , Kenna , P F , Cremers , F P M , Farrar , G J & Roosing , S 2021 , ' Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases ' , npj Genomic Medicine , vol. 6 , no. 1 , 97 . https://doi.org/10.1038/s41525-021-00261-1. , 2021

Link: https://pure.eur.nl/en/p..

13

Decoding the Genetics of Inherited Retinal Diseases in Irel..:

DOCKERY, ADRIAN
DOCKERY, ADRIAN, Decoding the Genetics of Inherited Retinal Diseases in Ireland, Trinity College Dublin.School of Genetics & Microbiology, 2019. , 2019

Link: http://hdl.handle.net/22..

14

A FBN1 variant manifesting as non-syndromic ectopia lentis ..:

Stephenson, Kirk A. J ; Dockery, Adrian ; O'Keefe, Michael...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7093504/. , 2019

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

15

Target 5000: Target Capture Sequencing for Inherited Retina..:

Dockery, Adrian ; Stephenson, Kirk ; Keegan, David...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5704217/. , 2017

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