Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

6,585 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.
Stephenson KAJ, Whelan L, Zhu J, Dockery A, Wynne NC, Cairns RM, Kirk C, Turner J, Duignan ES, O'Byrne JJ, Silvestri G, Kenna PF, Farrar GJ, Keegan DJ. Stephenson KAJ, et al. Among authors: turner j. Invest Ophthalmol Vis Sci. 2023 Jul 3;64(10):23. doi: 10.1167/iovs.64.10.23. Invest Ophthalmol Vis Sci. 2023. PMID: 37466950 Free PMC article.
Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations.
Stephenson KAJ, Zhu J, Wynne N, Dockery A, Cairns RM, Duignan E, Whelan L, Malone CP, Dempsey H, Collins K, Routledge S, Pandey R, Crossan E, Turner J, O'Byrne JJ, Brady L, Silvestri G, Kenna PF, Farrar GJ, Keegan DJ. Stephenson KAJ, et al. Among authors: turner j. Orphanet J Rare Dis. 2021 May 5;16(1):200. doi: 10.1186/s13023-021-01841-1. Orphanet J Rare Dis. 2021. PMID: 33952326 Free PMC article.
Designing rare disease care pathways in the Republic of Ireland: a co-operative model.
Ward AJ, Murphy D, Marron R, McGrath V, Bolz-Johnson M, Cullen W, Daly A, Hardiman O, Lawlor A, Lynch SA, MacLachlan M, McBrien J, Ni Bhriain S, O'Byrne JJ, O'Connell SM, Turner J, Treacy EP. Ward AJ, et al. Among authors: turner j. Orphanet J Rare Dis. 2022 Apr 11;17(1):162. doi: 10.1186/s13023-022-02309-6. Orphanet J Rare Dis. 2022. PMID: 35410222 Free PMC article.
MFRP-Associated Retinopathy and Nanophthalmos in Two Irish Probands: A Case Report.
O'Connell A, Zhu J, Stephenson KAJ, Whelan L, Dockery A, Turner J, O'Byrne JJ, Farrar GJ, Keegan D. O'Connell A, et al. Among authors: turner j. Case Rep Ophthalmol. 2022 Dec 16;13(3):1015-1023. doi: 10.1159/000527260. eCollection 2022 Sep-Dec. Case Rep Ophthalmol. 2022. PMID: 36605040 Free PMC article.
The role of primary care in management of rare diseases in Ireland.
Byrne N, Turner J, Marron R, Lambert DM, Murphy DN, O'Sullivan G, Mason M, Broderick F, Burke MC, Casey S, Doyle M, Gibney D, Mason F, Molony D, Ormond D, O' Sé C, O'Shea C, Treacy EP. Byrne N, et al. Among authors: turner j. Ir J Med Sci. 2020 Aug;189(3):771-776. doi: 10.1007/s11845-019-02168-4. Epub 2020 Jan 13. Ir J Med Sci. 2020. PMID: 31933130 Free PMC article.
6,585 results