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Phelan-McDermid syndrome: clinical report of a 70-year-old woman.
Verhoeven WM, Egger JI, Cohen-Snuijf R, Kant SG, de Leeuw N. Verhoeven WM, et al. Among authors: de leeuw n. Am J Med Genet A. 2013 Jan;161A(1):158-61. doi: 10.1002/ajmg.a.35597. Epub 2012 Nov 19. Am J Med Genet A. 2013. PMID: 23166010
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Pfundt R, Del Rosario M, Vissers LELM, Kwint MP, Janssen IM, de Leeuw N, Yntema HG, Nelen MR, Lugtenberg D, Kamsteeg EJ, Wieskamp N, Stegmann APA, Stevens SJC, Rodenburg RJT, Simons A, Mensenkamp AR, Rinne T, Gilissen C, Scheffer H, Veltman JA Prof Dr, Hehir-Kwa JY. Pfundt R, et al. Among authors: de leeuw n. Genet Med. 2017 Jun;19(6):667-675. doi: 10.1038/gim.2016.163. Epub 2016 Oct 27. Genet Med. 2017. PMID: 28574513 Free PMC article.
365 results