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Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.
Stewart DR, Brems H, Gomes AG, Ruppert SL, Callens T, Williams J, Claes K, Bober MB, Hachen R, Kaban LB, Li H, Lin A, McDonald M, Melancon S, Ortenberg J, Radtke HB, Samson I, Saul RA, Shen J, Siqveland E, Toler TL, van Maarle M, Wallace M, Williams M, Legius E, Messiaen L. Stewart DR, et al. Among authors: saul ra. Genet Med. 2014 Jun;16(6):448-59. doi: 10.1038/gim.2013.163. Epub 2013 Nov 14. Genet Med. 2014. PMID: 24232412 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
How best to use CGH arrays in the clinical setting.
Saul RA, Moeschler JB. Saul RA, et al. Genet Med. 2009 May;11(5):371; author reply 371-2. doi: 10.1097/gim.0b013e31819dbfb4. Genet Med. 2009. PMID: 19346958 No abstract available.
157 results