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Estimates of live birth prevalence of children with Down syndrome in the period 1991-2015 in the Netherlands.
de Graaf G, Engelen JJM, Gijsbers ACJ, Hochstenbach R, Hoffer MJV, Kooper AJA, Sikkema-Raddatz B, Srebniak MI, van der Kevie-Kersemaekers AMF, van Zutven LJCM, Voorhoeve E. de Graaf G, et al. Among authors: gijsbers acj. J Intellect Disabil Res. 2017 May;61(5):461-470. doi: 10.1111/jir.12371. Epub 2017 Mar 5. J Intellect Disabil Res. 2017. PMID: 28261902
Copy number variants in patients with short stature.
van Duyvenvoorde HA, Lui JC, Kant SG, Oostdijk W, Gijsbers AC, Hoffer MJ, Karperien M, Walenkamp MJ, Noordam C, Voorhoeve PG, Mericq V, Pereira AM, Claahsen-van de Grinten HL, van Gool SA, Breuning MH, Losekoot M, Baron J, Ruivenkamp CA, Wit JM. van Duyvenvoorde HA, et al. Eur J Hum Genet. 2014 May;22(5):602-9. doi: 10.1038/ejhg.2013.203. Epub 2013 Sep 25. Eur J Hum Genet. 2014. PMID: 24065112 Free PMC article.
Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.
Bijlsma EK, Gijsbers AC, Schuurs-Hoeijmakers JH, van Haeringen A, Fransen van de Putte DE, Anderlid BM, Lundin J, Lapunzina P, Pérez Jurado LA, Delle Chiaie B, Loeys B, Menten B, Oostra A, Verhelst H, Amor DJ, Bruno DL, van Essen AJ, Hordijk R, Sikkema-Raddatz B, Verbruggen KT, Jongmans MC, Pfundt R, Reeser HM, Breuning MH, Ruivenkamp CA. Bijlsma EK, et al. Eur J Med Genet. 2009 Mar-Jun;52(2-3):77-87. doi: 10.1016/j.ejmg.2009.03.006. Epub 2009 Mar 21. Eur J Med Genet. 2009. PMID: 19306953
Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.
Doornbos M, Sikkema-Raddatz B, Ruijvenkamp CA, Dijkhuizen T, Bijlsma EK, Gijsbers AC, Hilhorst-Hofstee Y, Hordijk R, Verbruggen KT, Kerstjens-Frederikse WS, van Essen T, Kok K, van Silfhout AT, Breuning M, van Ravenswaaij-Arts CM. Doornbos M, et al. Eur J Med Genet. 2009 Mar-Jun;52(2-3):108-15. doi: 10.1016/j.ejmg.2009.03.010. Epub 2009 Mar 27. Eur J Med Genet. 2009. PMID: 19328872
Risk of erroneous results in carrier testing for haemophilia A without prior DNA analysis in male index patients.
Fransen van de Putte DE, Frankhuizen WS, Vijfhuizen L, Groenewegen L, Tamminga RYJ, Bouman K, van Essen AJ, Gijsbers ACJ, Ruivenkamp CAL, Boon EMJ. Fransen van de Putte DE, et al. Among authors: gijsbers acj. Haemophilia. 2015 May;21(3):e237-e239. doi: 10.1111/hae.12648. Epub 2015 Feb 5. Haemophilia. 2015. PMID: 25655912 No abstract available.
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