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An Atypical Mild Phenotype of Autosomal Recessive RPE65-Associated Retinitis Pigmentosa.
Merle DA, Kohl S, Reith M, Schäferhoff K, Zuleger T, Stühn L, Stingl K, Kempf M, Kühlewein L, Grasshoff U, Stingl K. Merle DA, et al. Among authors: reith m. Klin Monbl Augenheilkd. 2024 Mar;241(3):266-271. doi: 10.1055/a-2264-5480. Epub 2024 Mar 20. Klin Monbl Augenheilkd. 2024. PMID: 38508215 English. No abstract available.
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.
Weisschuh N, Mazzola P, Zuleger T, Schaeferhoff K, Kühlewein L, Kortüm F, Witt D, Liebmann A, Falb R, Pohl L, Reith M, Stühn LG, Bertrand M, Müller A, Casadei N, Kelemen O, Kelbsch C, Kernstock C, Richter P, Sadler F, Demidov G, Schütz L, Admard J, Sturm M, Grasshoff U, Tonagel F, Heinrich T, Nasser F, Wissinger B, Ossowski S, Kohl S, Riess O, Stingl K, Haack TB. Weisschuh N, et al. Among authors: reith m. J Med Genet. 2024 Jan 19;61(2):186-195. doi: 10.1136/jmg-2023-109470. J Med Genet. 2024. PMID: 37734845 Free PMC article.
Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa.
Kelbsch C, Kempf M, Jung R, Kortüm F, Reith M, Kuehlewein L, Kohl S, Strasser T, Peters T, Wilhelm H, Wilhelm B, Stingl K, Stingl K. Kelbsch C, et al. Among authors: reith m. Invest Ophthalmol Vis Sci. 2023 Aug 1;64(11):18. doi: 10.1167/iovs.64.11.18. Invest Ophthalmol Vis Sci. 2023. PMID: 37578425 Free PMC article.
355 results