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Variability of retinopathy consequent upon novel mutations in LAMA1.
Schiff ER, Aychoua N, Nutan S, Davagnanam I, Moore AT, Robson AG, Patel CK, Webster AR, Arno G. Schiff ER, et al. Among authors: robson ag. Ophthalmic Genet. 2022 Oct;43(5):671-678. doi: 10.1080/13816810.2022.2076283. Epub 2022 May 26. Ophthalmic Genet. 2022. PMID: 35616092
Inherited retinal dystrophy and asymmetric axial length.
Francis P, Robson AG, Holder G, Moore A, Francis P, Moore A, Kaushal S. Francis P, et al. Among authors: robson ag. Br J Ophthalmol. 2003 Apr;87(4):503-4. doi: 10.1136/bjo.87.4.503. Br J Ophthalmol. 2003. PMID: 12642322 Free PMC article. No abstract available.
Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans.
Wu H, Cowing JA, Michaelides M, Wilkie SE, Jeffery G, Jenkins SA, Mester V, Bird AC, Robson AG, Holder GE, Moore AT, Hunt DM, Webster AR. Wu H, et al. Among authors: robson ag. Am J Hum Genet. 2006 Sep;79(3):574-9. doi: 10.1086/507568. Epub 2006 Jul 24. Am J Hum Genet. 2006. PMID: 16909397 Free PMC article.
205 results