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2011 2
2013 2
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Page 1
Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype-Phenotype Correlation in 228 Patients.
Beryozkin A, Aweidah H, Carrero Valenzuela RD, Berman M, Iguzquiza O, Cremers FPM, Khan MI, Swaroop A, Amer R, Khateb S, Ben-Yosef T, Sharon D, Banin E. Beryozkin A, et al. Front Cell Dev Biol. 2021 Oct 14;9:746781. doi: 10.3389/fcell.2021.746781. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 34722527 Free PMC article.
Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.
Ozgül RK, Siemiatkowska AM, Yücel D, Myers CA, Collin RW, Zonneveld MN, Beryozkin A, Banin E, Hoyng CB, van den Born LI; European Retinal Disease Consortium; Bose R, Shen W, Sharon D, Cremers FP, Klevering BJ, den Hollander AI, Corbo JC. Ozgül RK, et al. Among authors: beryozkin a. Am J Hum Genet. 2011 Aug 12;89(2):253-64. doi: 10.1016/j.ajhg.2011.07.005. Am J Hum Genet. 2011. PMID: 21835304 Free PMC article.
23 results