Showing 1 - 6 results of 6 for search 'James J. O'Byrne', query time: 0.02s
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Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing by Kirk A. J. Stephenson, Julia Zhu, Adrian Dockery, Laura Whelan, Tomás Burke, Jacqueline Turner, James J. O’Byrne, G. Jane Farrar, David J. Keegan
Published 2022-01-01
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Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population by Julia Zhu, Kirk A. J. Stephenson, Adrian Dockery, Jacqueline Turner, James J. O’Byrne, Susan Fitzsimon, G. Jane Farrar, D. Ian Flitcroft, David J. Keegan
Published 2022-03-01
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The Role of the Ophthalmic Genetics Multidisciplinary Team in the Management of Inherited Retinal Degenerations—A Case-Based Review by Marcus P. Conway, Kirk A. J. Stephenson, Julia Zhu, Adrian Dockery, Tomas Burke, Jacqueline Turner, Francois Thai Le, James J. O’Byrne, David J. Keegan
Published 2024-01-01
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P577: Gene panels for skeletal dysplasia and epilepsy: Maximizing clinical utility through careful design, regular review, and clinician-laboratory collaboration by Ahmad Abou Tayoun, Swaroop Aradhya, Mitch Bailey, Laila Bastaki, Sara Dosenovic, Fatih Ezgü, Emmanuela Izzo, Christina Lampe, James J. O'Byrne, Guillermo Seratti, Catherine Snow, Christian Staufner, Pasquale Striano
Published 2023-01-01
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Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients by Laura Whelan, Adrian Dockery, Kirk A. J. Stephenson, Julia Zhu, Ella Kopčić, Iris J. M. Post, Mubeen Khan, Zelia Corradi, Niamh Wynne, James J. O’ Byrne, Emma Duignan, Giuliana Silvestri, Susanne Roosing, Frans P. M. Cremers, David J. Keegan, Paul F. Kenna, G. Jane Farrar
Published 2023-06-01
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