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1985 1
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Page 1
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. Among authors: schuil j. Retina. 2020 Sep;40(9):1812-1828. doi: 10.1097/IAE.0000000000002681. Retina. 2020. PMID: 32032261
Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.
Pierrache LHM, Kimchi A, Ratnapriya R, Roberts L, Astuti GDN, Obolensky A, Beryozkin A, Tjon-Fo-Sang MJH, Schuil J, Klaver CCW, Bongers EMHF, Haer-Wigman L, Schalij N, Breuning MH, Fischer GM, Banin E, Ramesar RS, Swaroop A, van den Born LI, Sharon D, Cremers FPM. Pierrache LHM, et al. Among authors: schuil j. Ophthalmology. 2017 Jul;124(7):992-1003. doi: 10.1016/j.ophtha.2017.03.010. Epub 2017 Apr 13. Ophthalmology. 2017. PMID: 28412069 Free PMC article.
Chiasmal misrouting and foveal hypoplasia without albinism.
van Genderen MM, Riemslag FC, Schuil J, Hoeben FP, Stilma JS, Meire FM. van Genderen MM, et al. Among authors: schuil j. Br J Ophthalmol. 2006 Sep;90(9):1098-102. doi: 10.1136/bjo.2006.091702. Epub 2006 May 17. Br J Ophthalmol. 2006. PMID: 16707527 Free PMC article.
Corneal opacities in the Hallermann-Streiff syndrome.
Roulez FM, Schuil J, Meire FM. Roulez FM, et al. Among authors: schuil j. Ophthalmic Genet. 2008 Jun;29(2):61-6. doi: 10.1080/13816810802027101. Ophthalmic Genet. 2008. PMID: 18484310
A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population.
Yzer S, van den Born LI, Schuil J, Kroes HY, van Genderen MM, Boonstra FN, van den Helm B, Brunner HG, Koenekoop RK, Cremers FP. Yzer S, et al. Among authors: schuil j. J Med Genet. 2003 Sep;40(9):709-13. doi: 10.1136/jmg.40.9.709. J Med Genet. 2003. PMID: 12960219 Free PMC article. No abstract available.
14 results