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Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.
Mlynarski EE, Xie M, Taylor D, Sheridan MB, Guo T, Racedo SE, McDonald-McGinn DM, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Philip N, Simon TJ, Roberts AE, Piotrowicz M, Bearden CE, Eliez S, Gothelf D, Coleman K, Kates WR, Devoto M, Zackai E, Heine-Suñer D, Goldmuntz E, Bassett AS, Morrow BE, Emanuel BS; International Chromosome 22q11.2 Consortium. Mlynarski EE, et al. Among authors: swillen a. Hum Genet. 2016 Mar;135(3):273-85. doi: 10.1007/s00439-015-1623-9. Epub 2016 Jan 7. Hum Genet. 2016. PMID: 26742502 Free PMC article.
Renal and urological tract malformations caused by a 22q11 deletion.
Devriendt K, Swillen A, Fryns JP, Proesmans W, Gewillig M. Devriendt K, et al. Among authors: swillen a. J Med Genet. 1996 Apr;33(4):349. doi: 10.1136/jmg.33.4.349. J Med Genet. 1996. PMID: 8730297 Free PMC article. No abstract available.
Familial deletions of chromosome 22q11: the Leuven experience.
Swillen A, Devriendt K, Vantrappen G, Vogels A, Rommel N, Fryns JP, Eyskens B, Gewillig M, Dumoulin M. Swillen A, et al. Am J Med Genet. 1998 Dec 28;80(5):531-2. Am J Med Genet. 1998. PMID: 9880224 No abstract available.
134 results