E-LIB Suche - Ergebnisse für: Duignan, Emma

1

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...

2

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..

3

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...

4

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...

5

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

Carrigan, Matthew ; Duignan, Emma ; Malone, Conor P. G...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5021935/. , 2016

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

6

A novel homozygous truncating GNAT1 mutation implicated in ..:

Carrigan, Matthew ; Duignan, Emma ; Humphries, Pete...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4826887/. , 2016

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

7

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

Duignan, Emma ; Kenna, Paul ; Watson, Rosemarie..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC. , 2015

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

8

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...

9

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..

10

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..

11

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..

12

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

Ba-Abbad, Rola ; Robson, Anthony G ; Mahroo, Omar A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8182786/. , 2020

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

13

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

Hughes, Fintan E ; Treacy, Maxwell P ; Duignan, Emma S.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5731667/. , 2017

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

14

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/..

15

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

Kirk A. J. Stephenson ; Julia Zhu ; Niamh Wynne...
https://doi.org/10.1186/s13023-021-01841-1. , 2021

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