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Diagnostic exome sequencing in 266 Dutch patients with visual impairment.
Haer-Wigman L, van Zelst-Stams WA, Pfundt R, van den Born LI, Klaver CC, Verheij JB, Hoyng CB, Breuning MH, Boon CJ, Kievit AJ, Verhoeven VJ, Pott JW, Sallevelt SC, van Hagen JM, Plomp AS, Kroes HY, Lelieveld SH, Hehir-Kwa JY, Castelein S, Nelen M, Scheffer H, Lugtenberg D, Cremers FP, Hoefsloot L, Yntema HG. Haer-Wigman L, et al. Among authors: pott jw. Eur J Hum Genet. 2017 May;25(5):591-599. doi: 10.1038/ejhg.2017.9. Epub 2017 Feb 22. Eur J Hum Genet. 2017. PMID: 28224992 Free PMC article.
LONGITUDINAL STUDY OF RPE65-ASSOCIATED INHERITED RETINAL DEGENERATIONS.
Pierrache LHM, Ghafaryasl B, Khan MI, Yzer S, van Genderen MM, Schuil J, Boonstra FN, Pott JWR, de Faber JTHN, Tjon-Fo-Sang MJH, Vermeer KA, Cremers FPM, Klaver CCW, van den Born LI. Pierrache LHM, et al. Retina. 2020 Sep;40(9):1812-1828. doi: 10.1097/IAE.0000000000002681. Retina. 2020. PMID: 32032261
55 results