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Page 1
Fragile X syndrome detection in newborns-pilot study.
Saul RA, Friez M, Eaves K, Stapleton GA, Collins JS, Schwartz CE, Stevenson RE. Saul RA, et al. Genet Med. 2008 Oct;10(10):714-9. doi: 10.1097/GIM.0b013e3181862a76. Genet Med. 2008. PMID: 18813135 Free article.
22q13 deletion syndrome.
Phelan MC, Rogers RC, Saul RA, Stapleton GA, Sweet K, McDermid H, Shaw SR, Claytor J, Willis J, Kelly DP. Phelan MC, et al. Among authors: saul ra. Am J Med Genet. 2001 Jun 15;101(2):91-9. doi: 10.1002/1096-8628(20010615)101:2<91::aid-ajmg1340>3.0.co;2-c. Am J Med Genet. 2001. PMID: 11391650
Clinical utility of the X-chromosome array.
Zarate YA, Dwivedi A, Bartel FO, Bellomo MA, Cathey SS, Champaigne NL, Clarkson LK, Dupont BR, Everman DB, Geer JS, Gordon BC, Lichty AW, Lyons MJ, Rogers RC, Saul RA, Schroer RJ, Skinner SA, Stevenson RE. Zarate YA, et al. Among authors: saul ra. Am J Med Genet A. 2013 Jan;161A(1):120-30. doi: 10.1002/ajmg.a.35698. Epub 2012 Dec 3. Am J Med Genet A. 2013. PMID: 23208842
A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation.
Boccuto L, Aoki K, Flanagan-Steet H, Chen CF, Fan X, Bartel F, Petukh M, Pittman A, Saul R, Chaubey A, Alexov E, Tiemeyer M, Steet R, Schwartz CE. Boccuto L, et al. Hum Mol Genet. 2014 Jan 15;23(2):418-33. doi: 10.1093/hmg/ddt434. Epub 2013 Sep 10. Hum Mol Genet. 2014. PMID: 24026681 Free PMC article.
Fragile X syndrome in South Carolina.
Saul RA, Stevenson RE, Simensen RJ, Wilkes G, Alexander W, Taylor H. Saul RA, et al. J S C Med Assoc. 1982 Sep;78(9):475-7. J S C Med Assoc. 1982. PMID: 6958922 No abstract available.
Transport media for tissue specimens: a comparative study.
Potts WE, Saul RA, Riley SE, Stevenson RE, Taylor HA. Potts WE, et al. Among authors: saul ra. Am J Med Genet. 1983 Jul;15(3):507-10. doi: 10.1002/ajmg.1320150317. Am J Med Genet. 1983. PMID: 6881217 No abstract available.
55 results