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Autosomal recessive colobomatous microphthalmia.
Zlotogora J, Legum C, Raz J, Merin S, BenEzra D. Zlotogora J, et al. Among authors: merin s. Am J Med Genet. 1994 Feb 1;49(3):261-2. doi: 10.1002/ajmg.1320490302. Am J Med Genet. 1994. PMID: 8209881
Familial café au lait spots: a variant of neurofibromatosis type 1.
Abeliovich D, Gelman-Kohan Z, Silverstein S, Lerer I, Chemke J, Merin S, Zlotogora J. Abeliovich D, et al. Among authors: merin s. J Med Genet. 1995 Dec;32(12):985-6. doi: 10.1136/jmg.32.12.985. J Med Genet. 1995. PMID: 8825931 Free PMC article.
Variability of Stickler syndrome.
Zlotogora J, Sagi M, Schuper A, Leiba H, Merin S. Zlotogora J, et al. Among authors: merin s. Am J Med Genet. 1992 Feb 1;42(3):337-9. doi: 10.1002/ajmg.1320420316. Am J Med Genet. 1992. PMID: 1536174
A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews.
Zelinger L, Banin E, Obolensky A, Mizrahi-Meissonnier L, Beryozkin A, Bandah-Rozenfeld D, Frenkel S, Ben-Yosef T, Merin S, Schwartz SB, Cideciyan AV, Jacobson SG, Sharon D. Zelinger L, et al. Among authors: merin s. Am J Hum Genet. 2011 Feb 11;88(2):207-15. doi: 10.1016/j.ajhg.2011.01.002. Epub 2011 Feb 3. Am J Hum Genet. 2011. PMID: 21295282 Free PMC article.
Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.
Bandah-Rozenfeld D, Littink KW, Ben-Yosef T, Strom TM, Chowers I, Collin RW, den Hollander AI, van den Born LI, Zonneveld MN, Merin S, Banin E, Cremers FP, Sharon D. Bandah-Rozenfeld D, et al. Among authors: merin s. Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4387-94. doi: 10.1167/iovs.09-4732. Epub 2010 Apr 7. Invest Ophthalmol Vis Sci. 2010. PMID: 20375346 Free article.
89 results