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Page 1
Screening for 185delAG in the Ashkenazim.
Richards CS, Ward PA, Roa BB, Friedman LC, Boyd AA, Kuenzli G, Dunn JK, Plon SE. Richards CS, et al. Am J Hum Genet. 1997 May;60(5):1085-98. Am J Hum Genet. 1997. PMID: 9150156 Free PMC article.
Fragile X syndrome and an isodicentric X chromosome in a woman with multiple anomalies, developmental delay, and normal pubertal development.
Freedenberg DL, Gane LW, Richards CS, Lampe M, Hills J, O'Connor R, Manchester D, Taylor A, Tassone F, Hulseberg D, Hagerman RJ, Patil SR. Freedenberg DL, et al. Among authors: richards cs. Am J Med Genet. 1999 Jul 30;85(3):197-201. doi: 10.1002/(sici)1096-8628(19990730)85:3<197::aid-ajmg1>3.0.co;2-o. Am J Med Genet. 1999. PMID: 10398226
Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee.
Maddalena A, Richards CS, McGinniss MJ, Brothman A, Desnick RJ, Grier RE, Hirsch B, Jacky P, McDowell GA, Popovich B, Watson M, Wolff DJ. Maddalena A, et al. Among authors: richards cs. Genet Med. 2001 May-Jun;3(3):200-5. doi: 10.1097/00125817-200105000-00010. Genet Med. 2001. PMID: 11388762 Free PMC article.
Standards and guidelines for CFTR mutation testing.
Richards CS, Bradley LA, Amos J, Allitto B, Grody WW, Maddalena A, McGinnis MJ, Prior TW, Popovich BW, Watson MS, Palomaki GE. Richards CS, et al. Genet Med. 2002 Sep-Oct;4(5):379-91. doi: 10.1097/00125817-200209000-00010. Genet Med. 2002. PMID: 12394352 Free article.
Cystic fibrosis carrier screening: issues in implementation.
Watson MS, Desnick RJ, Grody WW, Mennuti MT, Popovich BW, Richards CS. Watson MS, et al. Among authors: richards cs. Genet Med. 2002 Nov-Dec;4(6):407-9. doi: 10.1097/00125817-200211000-00001. Genet Med. 2002. PMID: 12509709 Free article. No abstract available.
209 results