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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: kelbsch c. 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.
Central retina plays a decisive role in the suppression of pupillary escape.
Kelbsch C, Jendritza R, Strasser T, Tonagel F, Richter P, Jung R, Peters T, Wilhelm H, Wilhelm B, Stingl K. Kelbsch C, et al. Graefes Arch Clin Exp Ophthalmol. 2023 Jun;261(6):1713-1722. doi: 10.1007/s00417-022-05959-1. Epub 2023 Jan 16. Graefes Arch Clin Exp Ophthalmol. 2023. PMID: 36645454 Free PMC article.
Evaluation of Local Rod and Cone Function in Stargardt Disease.
Stingl K, Hoyng C, Kempf M, Kohl S, Jung R, Righetti G, Kühlewein L, Pohl L, Kortüm F, Kelbsch C, Wilhelm B, Peters T, Stingl K; SORAPRAZAN consortium. Stingl K, et al. Among authors: kelbsch c. Invest Ophthalmol Vis Sci. 2022 Mar 2;63(3):6. doi: 10.1167/iovs.63.3.6. Invest Ophthalmol Vis Sci. 2022. PMID: 35262734 Free PMC article.
46 results