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44 results
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Carrier screening in individuals of Ashkenazi Jewish descent.
Gross SJ, Pletcher BA, Monaghan KG; Professional Practice and Guidelines Committee. Gross SJ, et al. Among authors: pletcher ba. Genet Med. 2008 Jan;10(1):54-6. doi: 10.1097/GIM.0b013e31815f247c. Genet Med. 2008. PMID: 18197057 Free PMC article.
Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?
Levy B, Tegay D, Papenhausen P, Tepperberg J, Nahum O, Tsuchida T, Pletcher BA, Ala-Kokko L, Baker S, Frederick B, Hirschhorn K, Warburton P, Shanske A. Levy B, et al. Among authors: pletcher ba. Genet Med. 2012 Sep;14(9):811-8. doi: 10.1038/gim.2012.54. Epub 2012 May 31. Genet Med. 2012. PMID: 22653535
The future is now: carrier screening for all populations.
Pletcher BA, Gross SJ, Monaghan KG, Driscoll DA, Watson MS. Pletcher BA, et al. Genet Med. 2008 Jan;10(1):33-6. doi: 10.1097/GIM.0b013e31815f5934. Genet Med. 2008. PMID: 18197054 Review. No abstract available.
Indications for genetic referral: a guide for healthcare providers.
Pletcher BA, Toriello HV, Noblin SJ, Seaver LH, Driscoll DA, Bennett RL, Gross SJ. Pletcher BA, et al. Genet Med. 2007 Jun;9(6):385-9. doi: 10.1097/gim.0b013e318064e70c. Genet Med. 2007. PMID: 17575505 Free PMC article.
Preconception and prenatal testing of biologic fathers for carrier status. American College of Medical Genetics.
Pletcher BA, Bocian M; American College of Medical Genetics. Pletcher BA, et al. Genet Med. 2006 Feb;8(2):134-5. doi: 10.1097/01.gim.0000200948.58427.e2. Genet Med. 2006. PMID: 16481898 Free PMC article.
Fragile X syndrome: diagnostic and carrier testing.
Sherman S, Pletcher BA, Driscoll DA. Sherman S, et al. Among authors: pletcher ba. Genet Med. 2005 Oct;7(8):584-7. doi: 10.1097/01.gim.0000182468.22666.dd. Genet Med. 2005. PMID: 16247297 Free PMC article.
Four sibs with arterial tortuosity: description and review of the literature.
Pletcher BA, Fox JE, Boxer RA, Singh S, Blumenthal D, Cohen T, Brunson S, Tafreshi P, Kahn E. Pletcher BA, et al. Am J Med Genet. 1996 Dec 11;66(2):121-8. doi: 10.1002/(SICI)1096-8628(19961211)66:2<121::AID-AJMG1>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8958317 Review.
The practice of clinical genetics: a survey of practitioners.
Pletcher BA, Jewett EA, Cull WL, Brotherton SE, Hoyme HE, Pan RJ, Mulvey HJ. Pletcher BA, et al. Genet Med. 2002 May-Jun;4(3):142-9. doi: 10.1097/00125817-200205000-00008. Genet Med. 2002. PMID: 12180149
A Quality Improvement Collaborative to Improve Pediatric Primary Care Genetic Services.
Rinke ML, Driscoll A, Mikat-Stevens N, Healy J, Colantuoni E, Elias AF, Pletcher BA, Gubernick RS, Larson I, Chung WK, Tarini BA. Rinke ML, et al. Among authors: pletcher ba. Pediatrics. 2016 Feb;137(2):e20143874. doi: 10.1542/peds.2014-3874. Epub 2016 Jan 28. Pediatrics. 2016. PMID: 26823539 Free article.
Delineation of complex chromosomal rearrangements: evidence for increased complexity.
Astbury C, Christ LA, Aughton DJ, Cassidy SB, Fujimoto A, Pletcher BA, Schafer IA, Schwartz S. Astbury C, et al. Among authors: pletcher ba. Hum Genet. 2004 Apr;114(5):448-57. doi: 10.1007/s00439-003-1079-1. Epub 2004 Feb 7. Hum Genet. 2004. PMID: 14767757
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