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Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa.
Kuehlewein L, Zobor D, Stingl K, Kempf M, Nasser F, Bernd A, Biskup S, Cremers FPM, Khan MI, Mazzola P, Schäferhoff K, Heinrich T, Haack TB, Wissinger B, Zrenner E, Weisschuh N, Kohl S. Kuehlewein L, et al. Among authors: bernd a. Int J Mol Sci. 2021 Feb 27;22(5):2374. doi: 10.3390/ijms22052374. Int J Mol Sci. 2021. PMID: 33673512 Free PMC article.
Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.
Kuehlewein L, Zobor D, Andreasson SO, Ayuso C, Banfi S, Bocquet B, Bernd AS, Biskup S, Boon CJF, Downes SM, Fischer MD, Holz FG, Kellner U, Leroy BP, Meunier I, Nasser F, Rosenberg T, Rudolph G, Stingl K, Thiadens AAHJ, Wilhelm B, Wissinger B, Zrenner E, Kohl S, Weisschuh N; RD-CURE Consortium. Kuehlewein L, et al. Among authors: bernd as. JAMA Ophthalmol. 2020 Dec 1;138(12):1241-1250. doi: 10.1001/jamaophthalmol.2020.4206. JAMA Ophthalmol. 2020. PMID: 33057649 Free PMC article.
A novel NFKBIA variant substituting serine 36 of IκBα causes immunodeficiency with warts, bronchiectasis and juvenile rheumatoid arthritis in the absence of ectodermal dysplasia.
Sogkas G, Adriawan IR, Ringshausen FC, Baumann U, Schröder C, Klemann C, von Hardenberg S, Schmidt G, Bernd A, Jablonka A, Ernst D, Schmidt RE, Atschekzei F. Sogkas G, et al. Among authors: bernd a. Clin Immunol. 2020 Jan;210:108269. doi: 10.1016/j.clim.2019.108269. Epub 2019 Nov 1. Clin Immunol. 2020. PMID: 31683054
147 results