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

Year Number of Results
2017 1
2018 1
2020 3
2021 4
2022 2
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11 results
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Page 1
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.
[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.
Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa.
Charbel Issa P, Reuter P, Kühlewein L, Birtel J, Gliem M, Tropitzsch A, Whitcroft KL, Bolz HJ, Ishihara K, MacLaren RE, Downes SM, Oishi A, Zrenner E, Kohl S, Hummel T. Charbel Issa P, et al. Among authors: kuhlewein l. JAMA Ophthalmol. 2018 Jul 1;136(7):761-769. doi: 10.1001/jamaophthalmol.2018.1621. JAMA Ophthalmol. 2018. PMID: 29800053 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.
Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families.
Doll J, Vona B, Schnapp L, Rüschendorf F, Khan I, Khan S, Muhammad N, Alam Khan S, Nawaz H, Khan A, Ahmad N, Kolb SM, Kühlewein L, Labonne JDJ, Layman LC, Hofrichter MAH, Röder T, Dittrich M, Müller T, Graves TD, Kong IK, Nanda I, Kim HG, Haaf T. Doll J, et al. Among authors: kuhlewein l. Genes (Basel). 2020 Nov 11;11(11):1329. doi: 10.3390/genes11111329. Genes (Basel). 2020. PMID: 33187236 Free PMC article.
A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect.
Kohl S, Llavona P, Sauer A, Reuter P, Weisschuh N, Kempf M, Dehmelt FA, Arrenberg AB, Sliesoraityte I, Zrenner E, van Schooneveld MJ, Rudolph G, Kühlewein L, Wissinger B. Kohl S, et al. Among authors: kuhlewein l. Hum Mol Genet. 2021 Jun 17;30(13):1218-1229. doi: 10.1093/hmg/ddab117. Hum Mol Genet. 2021. PMID: 33891002 Free PMC article.
11 results