Suchergebnisse - Andrew R. Webster

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  1. 1
    The zebrafish eye—a paradigm for investigating human ocular genetics

    The zebrafish eye—a paradigm for investigating human ocular genetics von Rose Richardson, Dhani Tracey‐White, Andrew R. Webster, Mariya Moosajee

    Veröffentlicht 2016
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  2. 2
    QUANTITATIVE ANALYSIS OF HYPERAUTOFLUORESCENT RINGS TO CHARACTERIZE THE NATURAL HISTORY AND PROGRESSION IN RPGR-ASSOCIATED RETINOPATHY

    QUANTITATIVE ANALYSIS OF HYPERAUTOFLUORESCENT RINGS TO CHARACTERIZE THE NATURAL HISTORY AND PROGRESSION IN RPGR-ASSOCIATED RETINOPATHY von James Tee, Angelos Kalitzeos, Andrew R. Webster, Tünde Pető, Michel Michaelides

    Veröffentlicht 2017
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  3. 3
    A rare canonical splice-site variant in VPS13B causes attenuated Cohen syndrome

    A rare canonical splice-site variant in VPS13B causes attenuated Cohen syndrome von Malena Daich Varela, Fabiana Louise Motta, Andrew R. Webster, Gavin Arno

    Veröffentlicht 2021
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  4. 4
    Mechanism and evidence of nonsense suppression therapy for genetic eye disorders

    Mechanism and evidence of nonsense suppression therapy for genetic eye disorders von Rose Richardson, Matthew Smart, Dhani Tracey‐White, Andrew R. Webster, Mariya Moosajee

    Veröffentlicht 2017
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  5. 5
    Natural History Study of Retinal Structure, Progression, and Symmetry Using Ellipzoid Zone Metrics in RPGR-Associated Retinopathy

    Natural History Study of Retinal Structure, Progression, and Symmetry Using Ellipzoid Zone Metrics in RPGR-Associated Retinopathy von James Tee, Yesa Yang, Angelos Kalitzeos, Andrew R. Webster, James Bainbridge, Michel Michaelides

    Veröffentlicht 2018
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  6. 6
    FUNCTIONAL AND ANATOMICAL OUTCOMES OF CHOROIDAL NEOVASCULARIZATION COMPLICATING BEST1-RELATED RETINOPATHY

    FUNCTIONAL AND ANATOMICAL OUTCOMES OF CHOROIDAL NEOVASCULARIZATION COMPLICATING BEST1-RELATED RETINOPATHY von Kamron Khan, Omar A. Mahroo, Farrah Islam, Andrew R. Webster, Anthony T. Moore, Michel Michaelides

    Veröffentlicht 2016
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  7. 7
    An Analysis of Phenotypic Variation in the Familial Cancer Syndrome von Hippel–Lindau Disease: Evidence for Modifier Effects

    An Analysis of Phenotypic Variation in the Familial Cancer Syndrome von Hippel–Lindau Disease: Evidence for Modifier Effects von Andrew R. Webster, Frances M. Richards, Fiona E. MacRonald, Anthony T. Moore, Eamonn R. Maher

    Veröffentlicht 1998
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  8. 8
    Genetic influence on early age-related maculopathy

    Genetic influence on early age-related maculopathy von Christopher J. Hammond, Andrew R. Webster, Harold Snieder, Alan C. Bird, Clare Gilbert, Tim D. Spector

    Veröffentlicht 2002
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  9. 9
    Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation

    Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation von Hannah Currant, Tomas Fitzgerald, Praveen J. Patel, Anthony P. Khawaja, Andrew R. Webster, Omar A. Mahroo, Ewan Birney

    Veröffentlicht 2023
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  10. 10
    Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis

    Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis von Panagiotis I. Sergouniotis, Alice E. Davidson, Donna S. Mackay, Zheng Li, Yang Xu, Vincent Plagnol, Anthony T. Moore, Andrew R. Webster

    Veröffentlicht 2011
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  11. 11
    Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.

    Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations. von Eamonn R. Maher, Andrew R. Webster, Frances M. Richards, J S Green, Paul A. Crossey, Stewart J. Payne, Anthony T. Moore

    Veröffentlicht 1996
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  12. 12
    Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of <i>ABCA4</i>

    Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of <i>ABCA4</i> von Ana Fakin, Anthony G. Robson, Kaoru Fujinami, Anthony T. Moore, Michel Michaelides, John Chiang, Graham E. Holder, Andrew R. Webster

    Veröffentlicht 2016
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  13. 13
    The Effect on Retinal Structure and Function of 15 Specific <i>ABCA4</i> Mutations: A Detailed Examination of 82 Hemizygous Patients

    The Effect on Retinal Structure and Function of 15 Specific <i>ABCA4</i> Mutations: A Detailed Examination of 82 Hemizygous Patients von Ana Fakin, Anthony G. Robson, John Chiang, Kaoru Fujinami, Anthony T. Moore, Michel Michaelides, Graham E. Holder, Andrew R. Webster

    Veröffentlicht 2016
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  14. 14
    Coats-like Vasculopathy in Inherited Retinal Disease

    Coats-like Vasculopathy in Inherited Retinal Disease von Malena Daich Varela, Giovanni Conti, Samantha Malka, Veronika Vaclavik, Omar A. Mahroo, Andrew R. Webster, Hoai Viet Tran, Michel Michaelides

    Veröffentlicht 2023
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  15. 15
    Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update

    Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update von Anthony G. Robson, Michel Michaelides, Zubin Saihan, Alan C. Bird, Andrew R. Webster, Anthony T. Moore, Fred W. Fitzke, Graham E. Holder

    Veröffentlicht 2007
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  16. 16
    Prevalence of cystoid macular oedema, epiretinal membrane and cataract in retinitis pigmentosa

    Prevalence of cystoid macular oedema, epiretinal membrane and cataract in retinitis pigmentosa von Gerald Liew, Stacey A Strong, Patrick D. Bradley, Philip Severn, Anthony T. Moore, Andrew R. Webster, Paul Mitchell, Annette Kifley, Michel Michaelides

    Veröffentlicht 2018
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  17. 17
    Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies

    Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies von Leo Sheck, Wayne I. L. Davies, Phillip Moradi, Anthony G. Robson, Neruban Kumaran, Alki Liasis, Andrew R. Webster, Anthony T. Moore, Michel Michaelides

    Veröffentlicht 2018
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  18. 18
    Autosomal Recessive Bestrophinopathy

    Autosomal Recessive Bestrophinopathy von Giuseppe Casalino, Kamron Khan, Monica Armengol, Genevieve Wright, Nikolas Pontikos, Michalis Georgiou, Andrew R. Webster, Anthony G. Robson, Parampal S. Grewal, Michel Michaelides

    Veröffentlicht 2020
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  19. 19
    <i>ABCA4</i>Gene Screening by Next-Generation Sequencing in a British Cohort

    <i>ABCA4</i>Gene Screening by Next-Generation Sequencing in a British Cohort von Kaoru Fujinami, Jana Zernant, Ravinder Chana, Genevieve Wright, Kazushige Tsunoda, Yoko Ozawa, Kazuo Tsubota, Andrew R. Webster, Anthony T. Moore, Rando Allikmets, Michel Michaelides

    Veröffentlicht 2013
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  20. 20
    Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing

    Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing von Heather B. Steele-Stallard, Polona Le Quesne Stabej, Eva Lenassi, Linda Luxon, Mireille Claustres, Anne‐Françoise Roux, Andrew R. Webster, Maria Bitner‐Glindzicz

    Veröffentlicht 2013
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