תוצאות חיפוש - 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 מאת Hannah Currant, Tomas Fitzgerald, Praveen J. Patel, Anthony P. Khawaja, Andrew R. Webster, Omar A. Mahroo, Ewan Birney
יצא לאור 2023Artigo -
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Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis מאת Panagiotis I. Sergouniotis, Alice E. Davidson, Donna S. Mackay, Zheng Li, Yang Xu, Vincent Plagnol, Anthony T. Moore, Andrew R. Webster
יצא לאור 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 מאת Ana Fakin, Anthony G. Robson, John Chiang, Kaoru Fujinami, Anthony T. Moore, Michel Michaelides, Graham E. Holder, Andrew R. Webster
יצא לאור 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 מאת Anthony G. Robson, Michel Michaelides, Zubin Saihan, Alan C. Bird, Andrew R. Webster, Anthony T. Moore, Fred W. Fitzke, Graham E. Holder
יצא לאור 2007Revisão -
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Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies מאת Leo Sheck, Wayne I. L. Davies, Phillip Moradi, Anthony G. Robson, Neruban Kumaran, Alki Liasis, Andrew R. Webster, Anthony T. Moore, Michel Michaelides
יצא לאור 2018Artigo -
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כלי חיפוש:
נושאים קשורים
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