Torthaí cuardaigh - Andrew R. Webster
- 1 - 20 toradh as 110 á dtaispeáint
- Téigh chuig an gcéad leathanach eile
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The zebrafish eye—a paradigm for investigating human ocular genetics de réir Rose Richardson, Dhani Tracey‐White, Andrew R. Webster, Mariya Moosajee
Foilsithe / Cruthaithe 2016Revisão -
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A rare canonical splice-site variant in VPS13B causes attenuated Cohen syndrome de réir Malena Daich Varela, Fabiana Louise Motta, Andrew R. Webster, Gavin Arno
Foilsithe / Cruthaithe 2021Artigo -
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Mechanism and evidence of nonsense suppression therapy for genetic eye disorders de réir Rose Richardson, Matthew Smart, Dhani Tracey‐White, Andrew R. Webster, Mariya Moosajee
Foilsithe / Cruthaithe 2017Revisão -
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FUNCTIONAL AND ANATOMICAL OUTCOMES OF CHOROIDAL NEOVASCULARIZATION COMPLICATING BEST1-RELATED RETINOPATHY de réir Kamron Khan, Omar A. Mahroo, Farrah Islam, Andrew R. Webster, Anthony T. Moore, Michel Michaelides
Foilsithe / Cruthaithe 2016Artigo -
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An Analysis of Phenotypic Variation in the Familial Cancer Syndrome von Hippel–Lindau Disease: Evidence for Modifier Effects de réir Andrew R. Webster, Frances M. Richards, Fiona E. MacRonald, Anthony T. Moore, Eamonn R. Maher
Foilsithe / Cruthaithe 1998Artigo -
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Genetic influence on early age-related maculopathy de réir Christopher J. Hammond, Andrew R. Webster, Harold Snieder, Alan C. Bird, Clare Gilbert, Tim D. Spector
Foilsithe / Cruthaithe 2002Artigo -
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Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation de réir Hannah Currant, Tomas Fitzgerald, Praveen J. Patel, Anthony P. Khawaja, Andrew R. Webster, Omar A. Mahroo, Ewan Birney
Foilsithe / Cruthaithe 2023Artigo -
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Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis de réir Panagiotis I. Sergouniotis, Alice E. Davidson, Donna S. Mackay, Zheng Li, Yang Xu, Vincent Plagnol, Anthony T. Moore, Andrew R. Webster
Foilsithe / Cruthaithe 2011Artigo -
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Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations. de réir Eamonn R. Maher, Andrew R. Webster, Frances M. Richards, J S Green, Paul A. Crossey, Stewart J. Payne, Anthony T. Moore
Foilsithe / Cruthaithe 1996Artigo -
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Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of <i>ABCA4</i> de réir Ana Fakin, Anthony G. Robson, Kaoru Fujinami, Anthony T. Moore, Michel Michaelides, John Chiang, Graham E. Holder, Andrew R. Webster
Foilsithe / Cruthaithe 2016Artigo -
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The Effect on Retinal Structure and Function of 15 Specific <i>ABCA4</i> Mutations: A Detailed Examination of 82 Hemizygous Patients de réir Ana Fakin, Anthony G. Robson, John Chiang, Kaoru Fujinami, Anthony T. Moore, Michel Michaelides, Graham E. Holder, Andrew R. Webster
Foilsithe / Cruthaithe 2016Artigo -
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Coats-like Vasculopathy in Inherited Retinal Disease de réir Malena Daich Varela, Giovanni Conti, Samantha Malka, Veronika Vaclavik, Omar A. Mahroo, Andrew R. Webster, Hoai Viet Tran, Michel Michaelides
Foilsithe / Cruthaithe 2023Artigo -
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Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update de réir Anthony G. Robson, Michel Michaelides, Zubin Saihan, Alan C. Bird, Andrew R. Webster, Anthony T. Moore, Fred W. Fitzke, Graham E. Holder
Foilsithe / Cruthaithe 2007Revisão -
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Prevalence of cystoid macular oedema, epiretinal membrane and cataract in retinitis pigmentosa de réir Gerald Liew, Stacey A Strong, Patrick D. Bradley, Philip Severn, Anthony T. Moore, Andrew R. Webster, Paul Mitchell, Annette Kifley, Michel Michaelides
Foilsithe / Cruthaithe 2018Artigo -
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Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies de réir Leo Sheck, Wayne I. L. Davies, Phillip Moradi, Anthony G. Robson, Neruban Kumaran, Alki Liasis, Andrew R. Webster, Anthony T. Moore, Michel Michaelides
Foilsithe / Cruthaithe 2018Artigo -
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Photoreceptor Structure in<i>GNAT2</i>-Associated Achromatopsia de réir Michalis Georgiou, Navjit Singh, Thomas Kane, Anthony G. Robson, Angelos Kalitzeos, Nashila Hirji, Andrew R. Webster, Alfredo Dubra, Joseph Carroll, Michel Michaelides
Foilsithe / Cruthaithe 2020Artigo -
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Autosomal Recessive Bestrophinopathy de réir Giuseppe Casalino, Kamron Khan, Monica Armengol, Genevieve Wright, Nikolas Pontikos, Michalis Georgiou, Andrew R. Webster, Anthony G. Robson, Parampal S. Grewal, Michel Michaelides
Foilsithe / Cruthaithe 2020Artigo -
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<i>ABCA4</i>Gene Screening by Next-Generation Sequencing in a British Cohort de réir Kaoru Fujinami, Jana Zernant, Ravinder Chana, Genevieve Wright, Kazushige Tsunoda, Yoko Ozawa, Kazuo Tsubota, Andrew R. Webster, Anthony T. Moore, Rando Allikmets, Michel Michaelides
Foilsithe / Cruthaithe 2013Artigo
Uirlisí cuardaigh:
Ábhair a bhaineann le hábhar
Biology
Genetics
Gene
Medicine
Ophthalmology
Retinal
Phenotype
Mutation
Pathology
Retinitis pigmentosa
Computational biology
Retinal degeneration
Internal medicine
Disease
Exome sequencing
Bioinformatics
Missense mutation
Optometry
Biochemistry
Visual acuity
ABCA4
Allele
Genome
Neuroscience
Stargardt disease
Fundus (uterus)
Compound heterozygosity
Exon
Genotype
Cohort