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Microduplication and triplication of 22q11.2: a highly variable syndrome.
Am J Hum Genet. 2005 May;76(5):865-76. doi: 10.1086/429841. Epub 2005 Mar 30.
Am J Hum Genet. 2005.
PMID: 15800846
Free PMC article.
An HFE intronic variant promotes misdiagnosis of hereditary hemochromatosis.
Somerville MJ, Sprysak KA, Hicks M, Elyas BG, Vicen-Wyhony L.
Somerville MJ, et al. Among authors: sprysak ka.
Am J Hum Genet. 1999 Sep;65(3):924-6. doi: 10.1086/302550.
Am J Hum Genet. 1999.
PMID: 10441599
Free PMC article.
No abstract available.
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Toward optimal detection of the common prenatal aneuploidies by quantitative fluorescent-polymerase chain reaction: comparison of two commercial assays.
Scott P, Podemski L, Baptista Wyatt K, Walker C, Haase SM, Elyas BG, Sprysak KA, Lilley M, Christian S, Hicks M, Somerville MJ, Hume SL.
Scott P, et al. Among authors: sprysak ka.
Genet Test Mol Biomarkers. 2012 Aug;16(8):943-7. doi: 10.1089/gtmb.2012.0026. Epub 2012 Jun 29.
Genet Test Mol Biomarkers. 2012.
PMID: 22747196
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Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease.
Christiansen J, Dyck JD, Elyas BG, Lilley M, Bamforth JS, Hicks M, Sprysak KA, Tomaszewski R, Haase SM, Vicen-Wyhony LM, Somerville MJ.
Christiansen J, et al. Among authors: sprysak ka.
Circ Res. 2004 Jun 11;94(11):1429-35. doi: 10.1161/01.RES.0000130528.72330.5c. Epub 2004 Apr 29.
Circ Res. 2004.
PMID: 15117819
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Heteroduplex-based genotyping with microchip electrophoresis and dHPLC.
Footz T, Somerville MJ, Tomaszewski R, Sprysak KA, Backhouse CJ.
Footz T, et al. Among authors: sprysak ka.
Genet Test. 2003 Winter;7(4):283-93. doi: 10.1089/109065703322783635.
Genet Test. 2003.
PMID: 15000804
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