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Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.
Han JH, Rodenburg K, Hayman T, Calzetti G, Kaminska K, Quinodoz M, Marra M, Wallerich S, Allon G, Nagy ZZ, Knézy K, Li Y, Chen R, Barboni MTS, Yang P, Pennesi ME, van den Born LI, Varsányi B, Szabó V, Sharon D, Banin E, Ben-Yosef T, Roosing S, Koenekoop RK, Rivolta C. Han JH, et al. Among authors: allon g. Genet Med. 2024 Feb 28:101106. doi: 10.1016/j.gim.2024.101106. Online ahead of print. Genet Med. 2024. PMID: 38420906 Free article.
Screening for Myopia-Related Retinal Changes Among Teenagers.
Allon G, Machluf Y, Mezer E, Chaiter Y. Allon G, et al. Ophthalmic Surg Lasers Imaging Retina. 2019 Nov 1;50(11):e311-e319. doi: 10.3928/23258160-20191031-19. Ophthalmic Surg Lasers Imaging Retina. 2019. PMID: 31755983
18 results