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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.
[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 Mar 8. doi: 10.1055/a-2251-5382. Online ahead of print. Klin Padiatr. 2024. PMID: 38458231 Free article. German.
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.
Retest variability and patient reliability indices of quantitative fundus autofluorescence in age-related macular degeneration: a MACUSTAR study report.
von der Emde L, Mallwitz M, Vaisband M, Hasenauer J, Saßmannshausen M, Terheyden JH; MACUSTAR Consortium; Sloan KR, Schmitz-Valckenberg S, Finger RP, Holz FG, Ach T. von der Emde L, et al. Sci Rep. 2023 Oct 13;13(1):17417. doi: 10.1038/s41598-023-43417-y. Sci Rep. 2023. PMID: 37833348 Free PMC article.
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.
35 results