Found: 14
Select item for more details and to access through your institution.
Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 2, p. 995, doi. 10.3390/ijms23020995
- By:
- Publication type:
- Article
Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 12, p. 6419, doi. 10.3390/ijms22126419
- By:
- Publication type:
- Article
Next-Generation Sequencing Applications for Inherited Retinal Diseases.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5684, doi. 10.3390/ijms22115684
- By:
- Publication type:
- Article
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.
- Published in:
- Human Genetics, 2022, v. 141, n. 11, p. 1723, doi. 10.1007/s00439-022-02441-0
- By:
- Publication type:
- Article
Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-35889-9
- By:
- Publication type:
- Article
The Role of the Ophthalmic Genetics Multidisciplinary Team in the Management of Inherited Retinal Degenerations—A Case-Based Review.
- Published in:
- Life (2075-1729), 2024, v. 14, n. 1, p. 107, doi. 10.3390/life14010107
- By:
- Publication type:
- Article
Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0712-8
- By:
- Publication type:
- Article
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.
- Published in:
- NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00261-1
- By:
- Publication type:
- Article
Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Toward an elucidation of the molecular genetics of inherited retinal degenerations.
- Published in:
- Human Molecular Genetics, 2017, v. 26, p. R2, doi. 10.1093/hmg/ddx185
- By:
- Publication type:
- Article
MFRP-Associated Retinopathy and Nanophthalmos in Two Irish Probands: A Case Report.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population.
- Published in:
- Genes, 2022, v. 13, n. 4, p. 615, doi. 10.3390/genes13040615
- By:
- Publication type:
- Article
Findings from a Genotyping Study of over 1000 People with Inherited Retinal Disorders in Ireland.
- Published in:
- Genes, 2020, v. 11, n. 1, p. 105, doi. 10.3390/genes11010105
- By:
- Publication type:
- Article
Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations.
- Published in:
- Genes, 2017, v. 8, n. 11, p. 304, doi. 10.3390/genes8110304
- By:
- Publication type:
- Article