Robert Hufnagel to Retinal Dystrophies
This is a "connection" page, showing publications Robert Hufnagel has written about Retinal Dystrophies.
Connection Strength
1.724
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Early-Onset TIMP3-Related Retinopathy Associated With Impaired Signal Peptide. JAMA Ophthalmol. 2022 07 01; 140(7):730-733.
Score: 0.837
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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: 0.246
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Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy. Clin Genet. 2023 06; 103(6):699-703.
Score: 0.220
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Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF ?B-Mediated Autoinflammatory Disease with Retinal Dystrophy. Ophthalmology. 2023 04; 130(4):423-432.
Score: 0.214
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Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies. Genes (Basel). 2022 05 22; 13(5).
Score: 0.208