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Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.
Hum Genet. 2015 Jun;134(6):577-87. doi: 10.1007/s00439-015-1541-x. Epub 2015 Mar 20.
Hum Genet. 2015.
PMID: 25792360
Clinical Trial.
A novel GJB6 missense mutation in hidrotic ectodermal dysplasia 2 (Clouston syndrome) broadens its genotypic basis.
Baris HN, Zlotogorski A, Peretz-Amit G, Doviner V, Shohat M, Reznik-Wolf H, Pras E.
Baris HN, et al. Among authors: peretz amit g.
Br J Dermatol. 2008 Dec;159(6):1373-6. doi: 10.1111/j.1365-2133.2008.08796.x. Epub 2008 Aug 19.
Br J Dermatol. 2008.
PMID: 18717672
No abstract available.
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Clinical diversity of MYH7-related cardiomyopathies: Insights into genotype-phenotype correlations.
Hershkovitz T, Kurolap A, Ruhrman-Shahar N, Monakier D, DeChene ET, Peretz-Amit G, Funke B, Zucker N, Hirsch R, Tan WH, Baris Feldman H.
Hershkovitz T, et al. Among authors: peretz amit g.
Am J Med Genet A. 2019 Mar;179(3):365-372. doi: 10.1002/ajmg.a.61017. Epub 2018 Dec 27.
Am J Med Genet A. 2019.
PMID: 30588760
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A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin.
Reinstein E, Smirin-Yosef P, Lagovsky I, Davidov B, Peretz Amit G, Neumann D, Orr-Urtreger A, Ben-Shachar S, Basel-Vanagaite L.
Reinstein E, et al. Among authors: peretz amit g.
Mol Genet Metab. 2016 Jan;117(1):38-41. doi: 10.1016/j.ymgme.2015.11.011. Epub 2015 Nov 26.
Mol Genet Metab. 2016.
PMID: 26653794
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Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
Bower M, Salomon R, Allanson J, Antignac C, Benedicenti F, Benetti E, Binenbaum G, Jensen UB, Cochat P, DeCramer S, Dixon J, Drouin R, Falk MJ, Feret H, Gise R, Hunter A, Johnson K, Kumar R, Lavocat MP, Martin L, Morinière V, Mowat D, Murer L, Nguyen HT, Peretz-Amit G, Pierce E, Place E, Rodig N, Salerno A, Sastry S, Sato T, Sayer JA, Schaafsma GC, Shoemaker L, Stockton DW, Tan WH, Tenconi R, Vanhille P, Vats A, Wang X, Warman B, Weleber RG, White SM, Wilson-Brackett C, Zand DJ, Eccles M, Schimmenti LA, Heidet L.
Bower M, et al. Among authors: peretz amit g.
Hum Mutat. 2012 Mar;33(3):457-66. doi: 10.1002/humu.22020. Epub 2012 Jan 31.
Hum Mutat. 2012.
PMID: 22213154
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