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1دورية أكاديمية
المؤلفون: 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
المصدر: Scientific Reports, Vol 13, Iss 1, Pp 1-16 (2023)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2045-2322Test
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2دورية أكاديمية
المؤلفون: Zeinab Fadaie, Laura Whelan, Tamar Ben-Yosef, Adrian Dockery, Zelia Corradi, Christian Gilissen, Lonneke Haer-Wigman, Jordi Corominas, Galuh D. N. Astuti, Laura de Rooij, L. Ingeborgh van den Born, Caroline C. W. Klaver, Carel B. Hoyng, Niamh Wynne, Emma S. Duignan, Paul F. Kenna, Frans P. M. Cremers, G. Jane Farrar, Susanne Roosing
المصدر: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-11 (2021)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2056-7944Test
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3دورية أكاديمية
المؤلفون: Kirk A. J. Stephenson, Julia Zhu, Niamh Wynne, Adrian Dockery, Rebecca M. Cairns, Emma Duignan, Laura Whelan, Conor P. Malone, Hilary Dempsey, Karen Collins, Shana Routledge, Rajiv Pandey, Elaine Crossan, Jacqueline Turner, James J. O’Byrne, Laura Brady, Giuliana Silvestri, Paul F. Kenna, G. Jane Farrar, David J. Keegan
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
مصطلحات موضوعية: Inherited retinal degenerations, Retinal dystrophy, Ocular genetics, Genetic diagnosis, Clinical diagnostic algorithm, Public and patient involvement, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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4دورية أكاديمية
المؤلفون: Kirk Stephenson, Adrian Dockery, Niamh Wynne, Matthew Carrigan, Paul Kenna, G. Jane Farrar, David Keegan
المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-10 (2018)
مصطلحات موضوعية: X-linked Retinoschisis, Retinoschisin, Inherited retinal dystrophy, Inherited maculopathy, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12881-018-0712-8Test; https://doaj.org/toc/1471-2350Test
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5دورية أكاديمية
المؤلفون: Laura Whelan, Adrian Dockery, Niamh Wynne, Julia Zhu, Kirk Stephenson, Giuliana Silvestri, Jacqueline Turner, James J. O’Byrne, Matthew Carrigan, Peter Humphries, David Keegan, Paul F. Kenna, G. Jane Farrar
المصدر: Genes, Vol 11, Iss 1, p 105 (2020)
مصطلحات موضوعية: inherited eye disease, ophthalmic genetics, genomics, next generation sequencing, retinopathy, rare variants, novel variants, Genetics, QH426-470
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Adrian Dockery, Kirk Stephenson, David Keegan, Niamh Wynne, Giuliana Silvestri, Peter Humphries, Paul F. Kenna, Matthew Carrigan, G. Jane Farrar
المصدر: Genes, Vol 8, Iss 11, p 304 (2017)
مصطلحات موضوعية: retina, genetics, ophthalmology, retinitis pigmentosa, genomics, Genetics, QH426-470
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Heather Heitkotter, Mitchell T. Allphin, Ana Untaroiu, Heun Min, Emma Warr, Niamh Wynne, Robert F. Cooper, Joseph Carroll
مصطلحات موضوعية: Biophysics, Biochemistry, Medicine, Microbiology, Cell Biology, Genetics, Neuroscience, Physiology, Biotechnology, Evolutionary Biology, Developmental Biology, Infectious Diseases, Plant Biology, Computational Biology, Space Science, Astronomical and Space Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Mathematical Sciences not elsewhere classified, Physical Sciences not elsewhere classified, OCT, AOSLO, cone density, fovea, outer segment
الإتاحة: https://doi.org/10.6084/m9.figshare.24903267.v1Test
https://figshare.com/articles/journal_contribution/Peak_Cone_Density_Predicted_from_Outer_Segment_Length_Measured_on_Optical_Coherence_Tomography/24903267Test -
8دورية أكاديمية
المؤلفون: Kirk A. J. Stephenson (10753368), Julia Zhu (136722), Niamh Wynne (10753371), Adrian Dockery (10753374), Rebecca M. Cairns (10753377), Emma Duignan (10753380), Laura Whelan (10753383), Conor P. Malone (10753386), Hilary Dempsey (10753389), Karen Collins (2252665), Shana Routledge (10753392), Rajiv Pandey (10753395), Elaine Crossan (10753398), Jacqueline Turner (10753401), James J. O’Byrne (9693965), Laura Brady (10753404), Giuliana Silvestri (39877), Paul F. Kenna (9310388), G. Jane Farrar (9015866), David J. Keegan (10753407)
مصطلحات موضوعية: Genetics, Inherited retinal degenerations, Retinal dystrophy, Ocular genetics, Genetic diagnosis, Clinical diagnostic algorithm, Public and patient involvement
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9دورية أكاديمية
المؤلفون: Kirk A. J. Stephenson (10753368), Julia Zhu (136722), Niamh Wynne (10753371), Adrian Dockery (10753374), Rebecca M. Cairns (10753377), Emma Duignan (10753380), Laura Whelan (10753383), Conor P. Malone (10753386), Hilary Dempsey (10753389), Karen Collins (2252665), Shana Routledge (10753392), Rajiv Pandey (10753395), Elaine Crossan (10753398), Jacqueline Turner (10753401), James J. O’Byrne (9693965), Laura Brady (10753404), Giuliana Silvestri (39877), Paul F. Kenna (9310388), G. Jane Farrar (9015866), David J. Keegan (10753407)
مصطلحات موضوعية: Genetics, Inherited retinal degenerations, Retinal dystrophy, Ocular genetics, Genetic diagnosis, Clinical diagnostic algorithm, Public and patient involvement
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10
المؤلفون: Patricia L. Davis, Gerald A. Fishman, Darius Ansari, Michael A. Grassi, Frederick T Collison, Joseph Carroll, Poulami P Borkar, Xincheng Yao, Nicole Zangler, Niamh Wynne
المصدر: Exp Biol Med (Maywood)
مصطلحات موضوعية: Adult, Male, Fovea Centralis, medicine.medical_specialty, Adolescent, genetic structures, Vision Disorders, 01 natural sciences, General Biochemistry, Genetics and Molecular Biology, 010309 optics, 03 medical and health sciences, 0302 clinical medicine, Pathognomonic, Foveal, Ophthalmology, 0103 physical sciences, medicine, Humans, In patient, Child, Original Research, business.industry, Middle Aged, medicine.disease, eye diseases, Hypoplasia, Scanning laser ophthalmoscopy, Ophthalmoscopy, 030221 ophthalmology & optometry, Retinal imaging, Female, sense organs, business, Tomography, Optical Coherence
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f68997bf788a1e0dd55a36638d93793Test
https://doi.org/10.1177/15353702211021089Test