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Screening for Klinefelter syndrome.
Herlihy AS, McLachlan RI. Herlihy AS, et al. Curr Opin Endocrinol Diabetes Obes. 2015 Jun;22(3):224-9. doi: 10.1097/MED.0000000000000154. Curr Opin Endocrinol Diabetes Obes. 2015. PMID: 25871960 Review.
Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study.
Inaba Y, Herlihy AS, Schwartz CE, Skinner C, Bui QM, Cobb J, Shi EZ, Francis D, Arvaj A, Amor DJ, Pope K, Wotton T, Cohen J, Hewitt JK, Hagerman RJ, Metcalfe SA, Hopper JL, Loesch DZ, Slater HR, Godler DE. Inaba Y, et al. Among authors: herlihy as. Genet Med. 2013 Apr;15(4):290-8. doi: 10.1038/gim.2012.134. Epub 2012 Oct 11. Genet Med. 2013. PMID: 23060046 Free article.
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