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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: kernstock 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.
Retinal nerve fiber layer loss in multiple system atrophy.
Fischer MD, Synofzik M, Heidlauf R, Schicks J, Srulijes K, Kernstock C, Berg D, Schöls L, Schiefer U. Fischer MD, et al. Among authors: kernstock c. Mov Disord. 2011 Apr;26(5):914-6. doi: 10.1002/mds.23523. Epub 2011 Mar 21. Mov Disord. 2011. PMID: 21425333 No abstract available.
Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia.
Grau T, Artemyev NO, Rosenberg T, Dollfus H, Haugen OH, Cumhur Sener E, Jurklies B, Andreasson S, Kernstock C, Larsen M, Zrenner E, Wissinger B, Kohl S. Grau T, et al. Among authors: kernstock c. Hum Mol Genet. 2011 Feb 15;20(4):719-30. doi: 10.1093/hmg/ddq517. Epub 2010 Dec 1. Hum Mol Genet. 2011. PMID: 21127010 Free PMC article.
Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study.
Stingl K, Kurtenbach A, Hahn G, Kernstock C, Hipp S, Zobor D, Kohl S, Bonnet C, Mohand-Saïd S, Audo I, Fakin A, Hawlina M, Testa F, Simonelli F, Petit C, Sahel JA, Zrenner E. Stingl K, et al. Among authors: kernstock c. Doc Ophthalmol. 2019 Oct;139(2):151-160. doi: 10.1007/s10633-019-09704-8. Epub 2019 Jul 2. Doc Ophthalmol. 2019. PMID: 31267413
[Optic Disc Drusen].
Tonagel F, Kernstock C, Wilhelm H, Kelbsch C. Tonagel F, et al. Among authors: kernstock c. Klin Monbl Augenheilkd. 2019 Nov;236(11):1292-1297. doi: 10.1055/a-0942-7750. Epub 2019 Aug 15. Klin Monbl Augenheilkd. 2019. PMID: 31416098 German.
Unilateral Retinal Ischemia.
Kelbsch C, Maloca PM, Wilhelm H, Bartz-Schmidt KU, Kernstock C. Kelbsch C, et al. Among authors: kernstock c. Klin Monbl Augenheilkd. 2022 Aug;239(8):1013-1015. doi: 10.1055/a-1315-0518. Epub 2021 Mar 17. Klin Monbl Augenheilkd. 2022. PMID: 33733440 English, German. No abstract available.
29 results