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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: frenkel 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.
Genetic screening in patients with Retinoblastoma in Israel.
Sagi M, Frenkel A, Eilat A, Weinberg N, Frenkel S, Pe'er J, Abeliovich D, Lerer I. Sagi M, et al. Among authors: frenkel a, frenkel s. Fam Cancer. 2015 Sep;14(3):471-80. doi: 10.1007/s10689-015-9794-z. Fam Cancer. 2015. PMID: 25754945
Treatment Outcomes and Definition Inconsistencies in High-Risk Unilateral Retinoblastoma.
Arazi M, Baum A, Casavilca-Zambrano S, Alarcon-Leon S, Diaz-Coronado R, Ahmad A, Mushtaq A, Hussain M, Ushakova T, Yuri S, Vladimir P, Shields CL, Eagle RC Jr, Berry JL, Pike S, Brown B, Roy SR, Huque F, Fabian I, Frenkel S, Eiger-Moscovich M, Pe'er J, Hubbard GB 3rd, Olson TA, Grossniklaus H, Reddy MA, Sagoo MS, Staffieri SE, Elder JE, McKenzie JD, Tanabe M, Kaliki S, Fabian ID. Arazi M, et al. Among authors: frenkel s. Am J Ophthalmol. 2024 Dec;268:399-408. doi: 10.1016/j.ajo.2024.09.023. Epub 2024 Sep 25. Am J Ophthalmol. 2024. PMID: 39332513
203 results