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Duignan, Emma
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1

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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2

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/..
 
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3

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/..
 
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4

Panel-Based Population Next-Generation Sequencing for Inher..:

Carrigan, Matthew ; Duignan, Emma ; Malone, Conor P. G....
Scientific Reports.  6 (2016)  1 - p. , 2016
Link: https://doi.org/10.1038/..
 
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5

Ophthalmic Manifestations of Vitamin A and D Deficiency in ..:

Duignan, Emma ; Kenna, Paul ; Watson, Rosemarie..
Case Reports in Ophthalmology.  6 (2015)  1 - p. 24-29 , 2015
Link: https://doi.org/10.1159/..
 
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6

Should cardiac surgery be delayed among carriers of methici..:

Healy, David G. ; Duignan, Emma ; Tolan, Michael...
European Journal of Cardio-Thoracic Surgery.  39 (2011)  1 - p. 68-74 , 2011
Link: https://doi.org/10.1016/..
 
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7

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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8

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/..
 
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9

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/..
 
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10

Iris-fixated phakic intraocular lens explantation:

Duignan, Emma S ; Quigley, Clare ; Treacy, Maxwell P..
European Journal of Ophthalmology.  31 (2020)  3 - p. 988-993 , 2020
Link: https://doi.org/10.1177/..
 
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11

A clinical study of patients with novel CDHR1 genotypes ass..:

Ba-Abbad, Rola ; Robson, Anthony G. ; Mahroo, Omar A....
Eye.  35 (2020)  5 - p. 1482-1489 , 2020
Link: https://doi.org/10.1038/..
 
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12

Persistent pseudomyopia following a whiplash injury in a pr..:

Hughes, Fintan E. ; Treacy, Maxwell P. ; Duignan, Emma S..
American Journal of Ophthalmology Case Reports.  8 (2017)  - p. 28-30 , 2017
Link: https://doi.org/10.1016/..
 
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13

Long-term heavy silicone oil intraocular tamponade:

Dooley, Ian J. ; Duignan, Emma S. ; Kilmartin, Dara J.
International Ophthalmology.  36 (2015)  1 - p. 3-7 , 2015
Link: https://doi.org/10.1007/..
 
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14

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...
 
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15

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..
 
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