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Low Unconguted Estriol Levels in the Maternal Quadruple-Marker Screen in a Fetus with Cornelia de Lange Syndrome and a Partial Deletion of the NIPBL Gene
by Patrick L. Wilson, Jean Ricci Goodman, Erica Cole, John J. Mulvihill, Ji-Yun Lee, Shibo Li and Andrew Wagner
American Journal of Biomedical Research. 2013, 1(2), 25-27. DOI: 10.12691/ajbr-1-2-1
Pub. Date: March 22, 2013Views: 20886Downloads: 14881
Cornelia de Lange Syndrome prenatal quadruple screen trisomy 18 microarray Smith Lemli Opitz syndrome placenta
Abstract Full Text PDF (246 KB) Full Text HTML Full Text ePUB (165 KB)
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Prenatal Diagnosis of Osteopathia Striata with Cranial Sclerosis in a Male Fetus with a ~330kb Deletion of Xq11.1 Involving the WTX Gene
by Patrick L. Wilson, Ashley Davis, Jean Ricci Goodman, Lauren Notley, Shibo Li, Ji-Yun Lee, Zhongxin Yu, Klaas J. Wierenga and Andrew F. Wagner
American Journal of Medical and Biological Research. 2013, 1(1), 33-36. DOI: 10.12691/ajmbr-1-1-6
Pub. Date: February 23, 2013Views: 31691Downloads: 24806Citations: 2
Osteopathia striata with cranial sclerosis (OSCS) Wilms tumor on the X-chromosome (WTX) gene Microarray Mosaic Osteopetrosis Germline mosaicism
Abstract Full Text PDF (195 KB) Full Text HTML Full Text ePUB (401 KB)
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