Αποτελέσματα αναζήτησης - Andrew R. Webster
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Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation από Hannah Currant, Tomas Fitzgerald, Praveen J. Patel, Anthony P. Khawaja, Andrew R. Webster, Omar A. Mahroo, Ewan Birney
Έκδοση 2023Artigo -
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Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis από Panagiotis I. Sergouniotis, Alice E. Davidson, Donna S. Mackay, Zheng Li, Yang Xu, Vincent Plagnol, Anthony T. Moore, Andrew R. Webster
Έκδοση 2011Artigo -
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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 από Ana Fakin, Anthony G. Robson, John Chiang, Kaoru Fujinami, Anthony T. Moore, Michel Michaelides, Graham E. Holder, Andrew R. Webster
Έκδοση 2016Artigo -
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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 από Anthony G. Robson, Michel Michaelides, Zubin Saihan, Alan C. Bird, Andrew R. Webster, Anthony T. Moore, Fred W. Fitzke, Graham E. Holder
Έκδοση 2007Revisão -
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Prevalence of cystoid macular oedema, epiretinal membrane and cataract in retinitis pigmentosa από Gerald Liew, Stacey A Strong, Patrick D. Bradley, Philip Severn, Anthony T. Moore, Andrew R. Webster, Paul Mitchell, Annette Kifley, Michel Michaelides
Έκδοση 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 από Leo Sheck, Wayne I. L. Davies, Phillip Moradi, Anthony G. Robson, Neruban Kumaran, Alki Liasis, Andrew R. Webster, Anthony T. Moore, Michel Michaelides
Έκδοση 2018Artigo -
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<i>ABCA4</i>Gene Screening by Next-Generation Sequencing in a British Cohort από Kaoru Fujinami, Jana Zernant, Ravinder Chana, Genevieve Wright, Kazushige Tsunoda, Yoko Ozawa, Kazuo Tsubota, Andrew R. Webster, Anthony T. Moore, Rando Allikmets, Michel Michaelides
Έκδοση 2013Artigo
Εργαλεία αναζήτησης:
Σχετικά θέματα
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