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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2010 2
2011 3
2012 2
2013 6
2014 3
2015 2
2016 1
2018 1
2019 7
2020 2
2021 2
2022 2
2024 2

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29 results

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Page 1
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.
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.
[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.
Usher Syndrome and Color Vision.
Kurtenbach A, Hahn G, Kernstock C, Hipp S, Zobor D, Stingl K, Kohl S, Bonnet C, Mohand-Saïd S, Sliesoraityte I, Sahel JA, Audo I, Fakin A, Hawlina M, Testa F, Simonelli F, Petit C, Zrenner E. Kurtenbach A, et al. Among authors: kernstock c. Curr Eye Res. 2018 Oct;43(10):1295-1301. doi: 10.1080/02713683.2018.1501804. Epub 2018 Jul 30. Curr Eye Res. 2018. PMID: 30012035
Phenotyping of mouse models with OCT.
Fischer MD, Zhour A, Kernstock CJ. Fischer MD, et al. Among authors: kernstock cj. Methods Mol Biol. 2013;935:79-85. doi: 10.1007/978-1-62703-080-9_5. Methods Mol Biol. 2013. PMID: 23150361
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.
Wagner M, Osborn DPS, Gehweiler I, Nagel M, Ulmer U, Bakhtiari S, Amouri R, Boostani R, Hentati F, Hockley MM, Hölbling B, Schwarzmayr T, Karimiani EG, Kernstock C, Maroofian R, Müller-Felber W, Ozkan E, Padilla-Lopez S, Reich S, Reichbauer J, Darvish H, Shahmohammadibeni N, Tafakhori A, Vill K, Zuchner S, Kruer MC, Winkelmann J, Jamshidi Y, Schüle R. Wagner M, et al. Among authors: kernstock c. Nat Commun. 2019 Oct 21;10(1):4790. doi: 10.1038/s41467-019-12620-9. Nat Commun. 2019. PMID: 31636353 Free PMC article.
Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy.
Magrinelli F, Cali E, Braga VL, Yis U, Tomoum H, Shamseldin H, Raiman J, Kernstock C, Rezende Filho FM, Barsottini OGP, Taylor RW, Østergaard E, Tamim A, Schäferhoff K, Sallum JMF, Zaki MS, Kok F, Bhatia KP, Wissinger B, Sergeant K, Haack TB, Horvath R, Hiz S, Alkuraya FS, Houlden H, Pedroso JL, Maroofian R. Magrinelli F, et al. Among authors: kernstock c. Mov Disord Clin Pract. 2022 Jan 3;9(2):218-228. doi: 10.1002/mdc3.13398. eCollection 2022 Feb. Mov Disord Clin Pract. 2022. PMID: 35141356 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
29 results