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Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.
Fadaie Z, Whelan L, Ben-Yosef T, Dockery A, Corradi Z, Gilissen C, Haer-Wigman L, Corominas J, Astuti GDN, de Rooij L, van den Born LI, Klaver CCW, Hoyng CB, Wynne N, Duignan ES, Kenna PF, Cremers FPM, Farrar GJ, Roosing S. Fadaie Z, et al. Among authors: kenna pf. NPJ Genom Med. 2021 Nov 18;6(1):97. doi: 10.1038/s41525-021-00261-1. NPJ Genom Med. 2021. PMID: 34795310 Free PMC article.
A sequence polymorphism in the human peripherin/RDS gene.
Farrar GJ, Kenna P, Jordan SA, Kumar-Singh R, Humphries P. Farrar GJ, et al. Nucleic Acids Res. 1991 Dec 25;19(24):6982. doi: 10.1093/nar/19.24.6982-a. Nucleic Acids Res. 1991. PMID: 1762948 Free PMC article.
128 results