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Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction.
Bauwens M, Celik E, Zur D, Lin S, Quinodoz M, Michaelides M, Webster AR, Van Den Broeck F, Leroy BP, Rizel L, Moye AR, Meunier A, Tran HV, Moulin AP, Mahieu Q, Van Heetvelde M, Arno G, Rivolta C, De Baere E, Ben-Yosef T. Bauwens M, et al. Among authors: ben yosef t. Am J Hum Genet. 2024 Feb 1;111(2):393-402. doi: 10.1016/j.ajhg.2024.01.001. Epub 2024 Jan 24. Am J Hum Genet. 2024. PMID: 38272031 Free PMC article.
Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.
Runhart EH, Khan M, Cornelis SS, Roosing S, Del Pozo-Valero M, Lamey TM, Liskova P, Roberts L, Stöhr H, Klaver CCW, Hoyng CB, Cremers FPM, Dhaenens CM; Disease Consortium Study Group. Runhart EH, et al. JAMA Ophthalmol. 2020 Oct 1;138(10):1035-1042. doi: 10.1001/jamaophthalmol.2020.2990. JAMA Ophthalmol. 2020. PMID: 32815999 Free PMC article.
Recent advances in the understanding of syndromic forms of hearing loss.
Friedman TB, Schultz JM, Ben-Yosef T, Pryor SP, Lagziel A, Fisher RA, Wilcox ER, Riazuddin S, Ahmed ZM, Belyantseva IA, Griffith AJ. Friedman TB, et al. Ear Hear. 2003 Aug;24(4):289-302. doi: 10.1097/01.AUD.0000079804.00047.CE. Ear Hear. 2003. PMID: 12923420 Review. No abstract available.
A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.
Ben-Yosef T, Ness SL, Madeo AC, Bar-Lev A, Wolfman JH, Ahmed ZM, Desnick RJ, Willner JP, Avraham KB, Ostrer H, Oddoux C, Griffith AJ, Friedman TB. Ben-Yosef T, et al. N Engl J Med. 2003 Apr 24;348(17):1664-70. doi: 10.1056/NEJMoa021502. N Engl J Med. 2003. PMID: 12711741 Free article. No abstract available.
101 results