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A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.
Corsten-Janssen N, Bouman K, Diphoorn JCD, Scheper AJ, Kinds R, El Mecky J, Breet H, Verheij JBGM, Suijkerbuijk R, Duin LK, Manten GTR, van Langen IM, Sijmons RH, Sikkema-Raddatz B, Westers H, van Diemen CC. Corsten-Janssen N, et al. Among authors: sijmons rh. Prenat Diagn. 2020 Sep;40(10):1300-1309. doi: 10.1002/pd.5781. Epub 2020 Jul 20. Prenat Diagn. 2020. PMID: 32627857 Free PMC article.
Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.
Nelen MR, van Staveren WC, Peeters EA, Hassel MB, Gorlin RJ, Hamm H, Lindboe CF, Fryns JP, Sijmons RH, Woods DG, Mariman EC, Padberg GW, Kremer H. Nelen MR, et al. Among authors: sijmons rh. Hum Mol Genet. 1997 Aug;6(8):1383-7. doi: 10.1093/hmg/6.8.1383. Hum Mol Genet. 1997. PMID: 9259288 Free article.
Congenital knee dislocation in a 49,XXXXY boy.
Sijmons RH, van Essen AJ, Visser JD, Iprenburg M, Nelck GF, Vos-Bender ML, de Jong B. Sijmons RH, et al. J Med Genet. 1995 Apr;32(4):309-11. doi: 10.1136/jmg.32.4.309. J Med Genet. 1995. PMID: 7643364 Free PMC article.
Novel Algorithms for Improved Sensitivity in Non-Invasive Prenatal Testing.
Johansson LF, de Boer EN, de Weerd HA, van Dijk F, Elferink MG, Schuring-Blom GH, Suijkerbuijk RF, Sinke RJ, Te Meerman GJ, Sijmons RH, Swertz MA, Sikkema-Raddatz B. Johansson LF, et al. Among authors: sijmons rh. Sci Rep. 2017 May 12;7(1):1838. doi: 10.1038/s41598-017-02031-5. Sci Rep. 2017. PMID: 28500333 Free PMC article.
192 results