E-LIB Suche - Ergebnisse für: Duignan, Emma

1

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/..

2

CERKL-Associated Retinal Dystrophy:

Daich Varela, Malena ; Duignan, Emma S. ; De Silva, Samantha R....
Ophthalmology Retina. 7 (2023) 10 - p. 918-931 , 2023

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

3

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/..

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

CERKL-associated retinal dystrophy: Genetics, Phenotype and..:

Daich Varela, Malena ; Duignan, Emma S ; De Silva, Samantha R...
https://discovery.ucl.ac.uk/id/eprint/10172446/1/Michaelides_CERKL-associated%20retinal%20dystrophy_Pre-proof.pdf. , 2023

Link: https://discovery.ucl.ac..

7

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/..

8

Photoreceptors in health and monogenic disease: from half a..:

Mahroo, Omar A. ; Duignan, Emma
The Journal of Physiology. 600 (2022) 21 - p. 4583-4584 , 2022

Link: https://doi.org/10.1113/..

9

Photoreceptors in health and monogenic disease: from half a..:

Mahroo, Omar A ; Duignan, Emma
https://discovery.ucl.ac.uk/id/eprint/10156426/1/Mahroo_Photoreceptors%20in%20health%20and%20monogenic%20disease-%20from%20half%20a%20billion%20years%20ago%20to%20the%20future_AAM.pdf. , 2022

Link: https://discovery.ucl.ac..

10

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

Fadaie, Zeinab ; Whelan, Laura ; Ben-Yosef, Tamar...
npj Genomic Medicine. 6 (2021) 1 - p. , 2021

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

11

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

Stephenson, Kirk A. J. ; Zhu, Julia ; Wynne, Niamh...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

12

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...

13

On the Genotype and Phenotype of inherited retinal degenera..:

Duignan, Emma Sara
Duignan, Emma Sara, On the Genotype and Phenotype of inherited retinal degenerations in an irish popultion, Trinity College Dublin.School of Medicine, 2021. , 2021

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

14

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

Zeinab Fadaie ; Laura Whelan ; Tamar Ben-Yosef...
https://doi.org/10.1038/s41525-021-00261-1. , 2021

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

15

A Case Series of "Solitary Idiopathic Choroiditis" and Prop..:

Duignan, Emma ; O'Day, Roderick ; Moloney, Thomas..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7989809/. , 2021

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