Search Results - Suzanne Broadgate
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Detailed Phenotypic and Genotypic Characterization of Bietti Crystalline Dystrophy by Stephanie Halford, Gerald Liew, Donna S. Mackay, Panagiotis I. Sergouniotis, Richard Holt, Suzanne Broadgate, Emanuela V. Volpi, Louise Ocaka, Anthony G. Robson, Graham E. Holder, Anthony T. Moore, Michel Michaelides, Andrew R. Webster
Published 2014Artigo
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Biology
Computational biology
Gene
Genetics
Medicine
Pathology
ABCA4
Allele
Atrophy
Bioinformatics
Botany
Compound heterozygosity
DNA sequencing
Disease
Dystrophy
Electroretinography
Environmental health
External limiting membrane
Fluorescein angiography
Fundus (uterus)
Fundus photography
Genome
Human genome
Identification (biology)
In silico
Macular degeneration
Missense mutation
Ophthalmology
Phenotype
Photopigment