Výsledky vyhledávání - Dockery, Adrian

Next-Generation Sequencing Applications for Inherited Retinal Diseases Autor Dockery, Adrian, Whelan, Laura, Humphries, Pete, Farrar, G. Jane

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Pigmentary retinopathy masked by asymmetric acquired phenomena Autor Green Sanderson, Kit, Stephenson, Kirk A J, Dockery, Adrian, Keegan, David J

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Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant Autor Stephenson, Kirk, Dockery, Adrian, Wynne, Niamh, Carrigan, Matthew, Kenna, Paul, Jane Farrar, G., Keegan, David

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A FBN1 variant manifesting as non-syndromic ectopia lentis with retinal detachment: clinical and genetic characteristics Autor Stephenson, Kirk A. J., Dockery, Adrian, O’Keefe, Michael, Green, Andrew, Farrar, G. Jane, Keegan, David J.

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Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations Autor Dockery, Adrian, Stephenson, Kirk, Keegan, David, Wynne, Niamh, Silvestri, Giuliana, Humphries, Peter, Kenna, Paul F., Carrigan, Matthew, Farrar, G. Jane

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Toward an elucidation of the molecular genetics of inherited retinal degenerations Autor Farrar, G. Jane, Carrigan, Matthew, Dockery, Adrian, Millington-Ward, Sophia, Palfi, Arpad, Chadderton, Naomi, Humphries, Marian, Kiang, Anna Sophia, Kenna, Paul F., Humphries, Pete

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Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing Autor Stephenson, Kirk A. J., Zhu, Julia, Dockery, Adrian, Whelan, Laura, Burke, Tomás, Turner, Jacqueline, O’Byrne, James J., Farrar, G. Jane, Keegan, David J.

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Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population Autor Zhu, Julia, Stephenson, Kirk A. J., Dockery, Adrian, Turner, Jacqueline, O’Byrne, James J., Fitzsimon, Susan, Farrar, G. Jane, Flitcroft, D. Ian, Keegan, David J.

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Findings from a Genotyping Study of over 1000 People with Inherited Retinal Disorders in Ireland Autor Whelan, Laura, Dockery, Adrian, Wynne, Niamh, Zhu, Julia, Stephenson, Kirk, Silvestri, Giuliana, Turner, Jacqueline, O’Byrne, James J., Carrigan, Matthew, Humphries, Peter, Keegan, David, Kenna, Paul F., Farrar, G. Jane

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Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations Autor Stephenson, Kirk A. J., Zhu, Julia, Wynne, Niamh, Dockery, Adrian, Cairns, Rebecca M., Duignan, Emma, Whelan, Laura, Malone, Conor P., Dempsey, Hilary, Collins, Karen, Routledge, Shana, Pandey, Rajiv, Crossan, Elaine, Turner, Jacqueline, O’Byrne, James J., Brady, Laura, Silvestri, Giuliana, Kenna, Paul F., Farrar, G. Jane, Keegan, David J.

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Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases Autor Fadaie, Zeinab, Whelan, Laura, Ben-Yosef, Tamar, Dockery, Adrian, Corradi, Zelia, Gilissen, Christian, Haer-Wigman, Lonneke, Corominas, Jordi, Astuti, Galuh D. N., de Rooij, Laura, van den Born, L. Ingeborgh, Klaver, Caroline C. W., Hoyng, Carel B., Wynne, Niamh, Duignan, Emma S., Kenna, Paul F., Cremers, Frans P. M., Farrar, G. Jane, Roosing, Susanne

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Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases Autor Reurink, Janine, Dockery, Adrian, Oziębło, Dominika, Farrar, G. Jane, Ołdak, Monika, ten Brink, Jacoline B., Bergen, Arthur A., Rinne, Tuula, Yntema, Helger G., Pennings, Ronald J. E., van den Born, L. Ingeborgh, Aben, Marco, Oostrik, Jaap, Venselaar, Hanka, Plomp, Astrid S., Khan, M. Imran, van Wijk, Erwin, Cremers, Frans P. M., Roosing, Susanne, Kremer, Hannie

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