Robert Hufnagel to DNA Mutational Analysis
This is a "connection" page, showing publications Robert Hufnagel has written about DNA Mutational Analysis.
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Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy. Invest Ophthalmol Vis Sci. 2021 05 03; 62(6):22.
Score: 0.193
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Biallelic Loss-of-Function Variants in UBAP1L and Nonsyndromic Retinal Dystrophies. JAMA Ophthalmol. 2024 Nov 01; 142(11):1081-1086.
Score: 0.061
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High-throughput custom capture sequencing identifies novel mutations in coloboma-associated genes: Mutation in DNA-binding domain of retinoic acid receptor beta affects nuclear localization causing ocular coloboma. Hum Mutat. 2020 03; 41(3):678-695.
Score: 0.044
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Benign Yellow Dot Maculopathy: A New Macular Phenotype. Ophthalmology. 2017 07; 124(7):1004-1013.
Score: 0.036
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Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. Lancet Neurol. 2015 Dec; 14(12):1182-95.
Score: 0.033
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Planned preterm delivery and treatment of retinal neovascularization in Norrie disease. Ophthalmology. 2014 Jun; 121(6):1312-3.
Score: 0.029