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Year Number of Results
2017 1
2018 1
2020 3
2021 4
2022 3
2023 7
2024 12

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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: kuhlewein l. 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.
[Second opinion in retinal imaging].
Schmitz-Valckenberg S, Kühlewein L, Waldstein SM, Spital G, Ziemssen F, Liakopoulos S. Schmitz-Valckenberg S, et al. Among authors: kuhlewein l. Ophthalmologe. 2020 Apr;117(4):326-330. doi: 10.1007/s00347-020-01068-8. Ophthalmologe. 2020. PMID: 32108252 Review. German.
[Inferior variant of torpedo maculopythy].
Farese G, Kühlewein L, Hayek G, Boden K, Szurman P, Rickmann A. Farese G, et al. Among authors: kuhlewein l. Ophthalmologie. 2023 Sep;120(9):951-953. doi: 10.1007/s00347-022-01749-6. Epub 2022 Nov 22. Ophthalmologie. 2023. PMID: 36416919 German. No abstract available.
CNGB1-related rod-cone dystrophy: A mutation review and update.
Nassisi M, Smirnov VM, Solis Hernandez C, Mohand-Saïd S, Condroyer C, Antonio A, Kühlewein L, Kempf M, Kohl S, Wissinger B, Nasser F, Ragi SD, Wang NK, Sparrow JR, Greenstein VC, Michalakis S, Mahroo OA, Ba-Abbad R, Michaelides M, Webster AR, Degli Esposti S, Saffren B, Capasso J, Levin A, Hauswirth WW, Dhaenens CM, Defoort-Dhellemmes S, Tsang SH, Zrenner E, Sahel JA, Petersen-Jones SM, Zeitz C, Audo I. Nassisi M, et al. Among authors: kuhlewein l. Hum Mutat. 2021 Jun;42(6):641-666. doi: 10.1002/humu.24205. Epub 2021 May 16. Hum Mutat. 2021. PMID: 33847019 Free PMC article. Review.
A case of AZOOR under immunomodulatory treatment.
Merle DA, Wolfram L, Nasyrov E, Reith M, Kowalski M, Kempf M, Strudel L, Doycheva D, Deuter C, Stingl K, Kühlewein L. Merle DA, et al. Among authors: kuhlewein l. Retin Cases Brief Rep. 2024 Jul 23. doi: 10.1097/ICB.0000000000001643. Online ahead of print. Retin Cases Brief Rep. 2024. PMID: 39058998
Type 1 and type 2 torpedo maculopathy.
Rickmann A, Bodenbender JP, Gelisken F, Kühlewein L. Rickmann A, et al. Among authors: kuhlewein l. Graefes Arch Clin Exp Ophthalmol. 2024 Jun;262(6):1805-1810. doi: 10.1007/s00417-024-06386-0. Epub 2024 Jan 30. Graefes Arch Clin Exp Ophthalmol. 2024. PMID: 38289371 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: kuhlewein l. 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.
[Improved Care and Treatment Options for Patients with Hyperphagia-Associated Obesity in Bardet-Biedl Syndrome].
Cetiner M, Bergmann C, Bettendorf M, Faust J, Gäckler A, Gillissen B, Hansen M, Kerber M, Klaus G, König J, Kühlewein L, Oh J, Richter-Unruh A, von Schnurbein J, Wabitsch M, Weihrauch-Blüher S, Pape L. Cetiner M, et al. Among authors: kuhlewein l. Klin Padiatr. 2024 Sep;236(5):269-279. doi: 10.1055/a-2251-5382. Epub 2024 Mar 8. Klin Padiatr. 2024. PMID: 38458231 Free PMC article. Review. German.
29 results