E-LIB Suche - Ergebnisse für: O'Byrne, James J.

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

Long-Term Cardiorespiratory, Endocrine, Ophthalmic, and Fun..:

Stepien, Karolina M. ; Treacy, Max ; Katiri, Roulla...
Journal of Inborn Errors of Metabolism and Screening. 12 (2024) - p. , 2024

Link: https://doi.org/10.1590/..

4

P577: Gene panels for skeletal dysplasia and epilepsy: Maxi..:

Tayoun, Ahmad Abou ; Aradhya, Swaroop ; Bailey, Mitch...
Genetics in Medicine Open. 1 (2023) 1 - p. 100624 , 2023

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

5

Genetics:

, In: Pediatric Surgery,

O'Byrne, James J. ; Green, Andrew J. - p. 145-153 , 2023

Link: https://doi.org/10.1007/..

6

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/..

7

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/..

8

Clinical and Genetic Re-Evaluation of Inherited Retinal Deg..:

Stephenson, Kirk A. J. ; Zhu, Julia ; Dockery, Adrian...
International Journal of Molecular Sciences. 23 (2022) 2 - p. 995 , 2022

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

9

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/..

10

Clinical Reasoning: A 23-Year-Old Woman Presenting With Cog..:

Chaity, Dimitra Khalil ; Fearon, Conor ; Alexander, Michael...
Neurology. 99 (2022) 22 - p. 997-1003 , 2022

Link: https://doi.org/10.1212/..

11

Management of pregnancy in a patient with long‐chain 3‐hydr..:

Shakerdi, Loai A. ; McNulty, Jenny ; Gillman, Barbara...
JIMD Reports. 63 (2022) 4 - p. 265-270 , 2022

Link: https://doi.org/10.1002/..

12

The Role of the European Society of Human Genetics in Deliv..:

Tobias, Edward S. ; Avram, Elena ; Calapod, Patricia...
Frontiers in Genetics. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

13

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/..

14

Management of significant secondary genetic findings in an ..:

Zhu, Julia ; Stephenson, Kirk A J ; Farrar, G. Jane...
Eye. 36 (2021) 4 - p. 896-898 , 2021

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

15

Findings from a Genotyping Study of over 1000 People with I..:

Whelan, Laura ; Dockery, Adrian ; Wynne, Niamh...
Genes. 11 (2020) 1 - p. 105 , 2020

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