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Page 1
Velo-Cardio-Facial Syndrome.
Gothelf D, Frisch A, Michaelovsky E, Weizman A, Shprintzen RJ. Gothelf D, et al. J Ment Health Res Intellect Disabil. 2009 Apr;2(2):149-167. doi: 10.1080/19315860902756136. J Ment Health Res Intellect Disabil. 2009. PMID: 20111667 Free PMC article.
Velopharyngeal insufficiency: diagnosis and management.
Shprintzen RJ, Marrinan E. Shprintzen RJ, et al. Curr Opin Otolaryngol Head Neck Surg. 2009 Aug;17(4):302-7. doi: 10.1097/MOO.0b013e32832cbd6b. Curr Opin Otolaryngol Head Neck Surg. 2009. PMID: 19448542 Free PMC article. Review.
Sclerocornea associated with the chromosome 22q11.2 deletion syndrome.
Binenbaum G, McDonald-McGinn DM, Zackai EH, Walker BM, Coleman K, Mach AM, Adam M, Manning M, Alcorn DM, Zabel C, Anderson DR, Forbes BJ. Binenbaum G, et al. Am J Med Genet A. 2008 Apr 1;146A(7):904-9. doi: 10.1002/ajmg.a.32156. Am J Med Genet A. 2008. PMID: 18324686 Free PMC article.
Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.
Coppinger J, McDonald-McGinn D, Zackai E, Shane K, Atkin JF, Asamoah A, Leland R, Weaver DD, Lansky-Shafer S, Schmidt K, Feldman H, Cohen W, Phalin J, Powell B, Ballif BC, Theisen A, Geiger E, Haldeman-Englert C, Shaikh TH, Saitta S, Bejjani BA, Shaffer LG. Coppinger J, et al. Hum Mol Genet. 2009 Apr 15;18(8):1377-83. doi: 10.1093/hmg/ddp042. Epub 2009 Feb 3. Hum Mol Genet. 2009. PMID: 19193630 Free PMC article.
14 results