Robert Hufnagel to Cone-Rod Dystrophies
This is a "connection" page, showing publications Robert Hufnagel has written about Cone-Rod Dystrophies.
Connection Strength
1.179
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RPGR: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3'-end of ORF15. Invest Ophthalmol Vis Sci. 2023 09 01; 64(12):19.
Score: 0.227
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Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies. Genes (Basel). 2022 05 22; 13(5).
Score: 0.208
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ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease. Invest Ophthalmol Vis Sci. 2022 04 01; 63(4):20.
Score: 0.206
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PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults. Invest Ophthalmol Vis Sci. 2020 10 01; 61(12):1.
Score: 0.186
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Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort. Am J Med Genet A. 2020 03; 182(3):493-497.
Score: 0.178
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Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy. Invest Ophthalmol Vis Sci. 2019 11 01; 60(14):4811-4819.
Score: 0.174