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Keratoendotheliitis Fugax Hereditaria: A Novel Cryopyrin-Associated Periodic Syndrome Caused by a Mutation in the Nucleotide-Binding Domain, Leucine-Rich Repeat Family, Pyrin Domain-Containing 3 (NLRP3) Gene.
Turunen JA, Wedenoja J, Repo P, Järvinen RS, Jäntti JE, Mörtenhumer S, Riikonen AS, Lehesjoki AE, Majander A, Kivelä TT. Turunen JA, et al. Among authors: majander a. Am J Ophthalmol. 2018 Apr;188:41-50. doi: 10.1016/j.ajo.2018.01.017. Epub 2018 Jan 31. Am J Ophthalmol. 2018. PMID: 29366613 Free article.
WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression.
Majander A, Jurkute N, Burté F, Brock K, João C, Huang H, Neveu MM, Chan CM, Duncan HJ, Kelly S, Burkitt-Wright E, Khoyratty F, Lai YT, Subash M, Chinnery PF, Bitner-Glindzicz M, Arno G, Webster AR, Moore AT, Michaelides M, Stockman A, Robson AG, Yu-Wai-Man P. Majander A, et al. Am J Ophthalmol. 2022 Sep;241:9-27. doi: 10.1016/j.ajo.2022.04.003. Epub 2022 Apr 22. Am J Ophthalmol. 2022. PMID: 35469785 Free article.
46 results