Merin S - Search Results

1

Neurofibromatosis type I (NFI) in Israeli families: linkage analysis as a diagnostic tool.

Elyakim S, Lerer I, Zlotogora J, Sagi M, Gelman-Kohan Z, Merin S, Abeliovich D. Elyakim S, et al. Among authors: merin s. Am J Med Genet. 1994 Dec 1;53(4):325-34. doi: 10.1002/ajmg.1320530405. Am J Med Genet. 1994. PMID: 7864041

2

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

3

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

4

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.

5

Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.

Beryozkin A, Zelinger L, Bandah-Rozenfeld D, Shevach E, Harel A, Storm T, Sagi M, Eli D, Merin S, Banin E, Sharon D. Beryozkin A, et al. Among authors: merin s. Invest Ophthalmol Vis Sci. 2014 Feb 24;55(2):1149-60. doi: 10.1167/iovs.13-13625. Invest Ophthalmol Vis Sci. 2014. PMID: 24474277

6

Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling.

Arbour NC, Zlotogora J, Knowlton RG, Merin S, Rosenmann A, Kanis AB, Rokhlina T, Stone EM, Sheffield VC. Arbour NC, et al. Among authors: merin s. Hum Mol Genet. 1997 May;6(5):689-94. doi: 10.1093/hmg/6.5.689. Hum Mol Genet. 1997. PMID: 9158143

7

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.

8

Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa.

Bandah-Rozenfeld D, Mizrahi-Meissonnier L, Farhy C, Obolensky A, Chowers I, Pe'er J, Merin S, Ben-Yosef T, Ashery-Padan R, Banin E, Sharon D. Bandah-Rozenfeld D, et al. Among authors: merin s. Am J Hum Genet. 2010 Sep 10;87(3):382-91. doi: 10.1016/j.ajhg.2010.07.022. Epub 2010 Aug 12. Am J Hum Genet. 2010. PMID: 20705279 Free PMC article.

9

A family with retinitis pigmentosa and ESRD with late presentation, hypertension and absence of polyuria or salt wasting.

Friedlaender MM, Rubinger D, Silver J, Zlotogora J, Merin S, Popovtzer MM. Friedlaender MM, et al. Among authors: merin s. Clin Nephrol. 1986 Apr;25(4):202-6. Clin Nephrol. 1986. PMID: 3698352

10

Mutations in CRB1 are a relatively common cause of autosomal recessive early-onset retinal degeneration in the Israeli and Palestinian populations.

Beryozkin A, Zelinger L, Bandah-Rozenfeld D, Harel A, Strom TA, Merin S, Chowers I, Banin E, Sharon D. Beryozkin A, et al. Among authors: merin s. Invest Ophthalmol Vis Sci. 2013 Mar 1;54(3):2068-75. doi: 10.1167/iovs.12-11419. Invest Ophthalmol Vis Sci. 2013. PMID: 23449718

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