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Page 1
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn SE, Iglesias-Romero AB, Boonen EGM, Ullah M, Zomer N, Folcher M, Bijon J, Holtes LK, Tsang SH, Corradi Z, Freund KB, Shliaga S, Panneman DM, Hitti-Malin RJ, Ali M, AlTalbishi A, Andréasson S, Ansari G, Arno G, Astuti GDN, Ayuso C, Ayyagari R, Banfi S, Banin E, Barboni MTS, Bauwens M, Ben-Yosef T, Birch DG, Biswas P, Blanco-Kelly F, Bocquet B, Boon CJF, Branham K, Britten-Jones AC, Bujakowska KM, Cadena EL, Calzetti G, Cancellieri F, Cattaneo L, Issa PC, Chadderton N, Coutinho-Santos L, Daiger SP, De Baere E, de la Cerda B, De Roach JN, De Zaeytijd J, Derks R, Dhaenens CM, Dudakova L, Duncan JL, Farrar GJ, Feltgen N, Fernández-Caballero L, Sallum JMF, Gana S, Garanto A, Gardner JC, Gilissen C, Goto K, Gonzàlez-Duarte R, Griffiths-Jones S, Haack TB, Haer-Wigman L, Hardcastle AJ, Hayashi T, Héon E, Hoischen A, Holtan JP, Hoyng CB, Ibanez MBB, Inglehearn CF, Iwata T, Jones K, Kalatzis V, Kamakari S, Karali M, Kellner U, Knézy K, Klaver CCW, Koenekoop RK, Kohl S, Kominami T, Kühlewein L, Lamey TM, Leroy BP, Martín-Gutiérrez MP, Martins N, Mauring L, Leibu R, Lin S, Liskova P, Lopez I, López-Rodríguez VRJ, Mahroo OA, Mane… See abstract for full author list ➔ Quinodoz M, et al. Among authors: kuhlewein l. medRxiv [Preprint]. 2025 Jan 6:2025.01.06.24317169. doi: 10.1101/2025.01.06.24317169. medRxiv. 2025. PMID: 39830270 Free PMC article. Preprint.
[Electrophysiology in ophthalmology].
Kühlewein L, Stingl K. Kühlewein L, et al. Ophthalmologie. 2024 Dec;121(12):1001-1010. doi: 10.1007/s00347-024-02134-1. Epub 2024 Nov 15. Ophthalmologie. 2024. PMID: 39545992 Review. German.
Age-dependencies of the electroretinogram in healthy subjects.
Jung R, Kempf M, Righetti G, Nasser F, Kühlewein L, Stingl K, Stingl K. Jung R, et al. Among authors: kuhlewein l. Doc Ophthalmol. 2024 Oct;149(2):99-113. doi: 10.1007/s10633-024-09991-w. Epub 2024 Sep 9. Doc Ophthalmol. 2024. PMID: 39251480 Free PMC article.
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
Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes.
Bodenbender JP, Marino V, Philipp J, Tropitzsch A, Kernstock C, Stingl K, Kempf M, Haack TB, Zuleger T, Mazzola P, Kohl S, Weisschuh N, Dell'Orco D, Kühlewein L. Bodenbender JP, et al. Among authors: kuhlewein l. Sci Rep. 2024 May 8;14(1):10551. doi: 10.1038/s41598-024-61019-0. Sci Rep. 2024. PMID: 38719929 Free PMC article.
An Atypical Mild Phenotype of Autosomal Recessive RPE65-Associated Retinitis Pigmentosa.
Merle DA, Kohl S, Reith M, Schäferhoff K, Zuleger T, Stühn L, Stingl K, Kempf M, Kühlewein L, Grasshoff U, Stingl K. Merle DA, et al. Among authors: kuhlewein l. Klin Monbl Augenheilkd. 2024 Mar;241(3):266-271. doi: 10.1055/a-2264-5480. Epub 2024 Mar 20. Klin Monbl Augenheilkd. 2024. PMID: 38508215 English. No abstract available.
41 results