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Identification and characterization of a missense mutation in the O-linked β-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability.
Vaidyanathan K, Niranjan T, Selvan N, Teo CF, May M, Patel S, Weatherly B, Skinner C, Opitz J, Carey J, Viskochil D, Gecz J, Shaw M, Peng Y, Alexov E, Wang T, Schwartz C, Wells L. Vaidyanathan K, et al. Among authors: viskochil d. J Biol Chem. 2017 May 26;292(21):8948-8963. doi: 10.1074/jbc.M116.771030. Epub 2017 Mar 16. J Biol Chem. 2017. PMID: 28302723 Free PMC article.
The NF1 translocation breakpoint region.
O'Connell P, Cawthon RM, Viskochil D, White R, Carey JC, Buchberg AM. O'Connell P, et al. Among authors: viskochil d. Ann N Y Acad Sci. 1991;615:319-31. doi: 10.1111/j.1749-6632.1991.tb37774.x. Ann N Y Acad Sci. 1991. PMID: 1903909 Review.
Current status of the human malformation map.
Carey JC, Viskochil DH. Carey JC, et al. Among authors: viskochil dh. Birth Defects Orig Artic Ser. 1996;30(1):13-34. Birth Defects Orig Artic Ser. 1996. PMID: 9125323 Review.
Wolf-Hirschhorn syndrome (WHS): a history in pictures.
Battaglia A, Carey JC, Viskochil DH, Cederholm P, Opitz JM. Battaglia A, et al. Among authors: viskochil dh. Clin Dysmorphol. 2000 Jan;9(1):25-30. doi: 10.1097/00019605-200009010-00005. Clin Dysmorphol. 2000. PMID: 10649793
Status of the human malformation map: 2002.
Carey JC, Viskochil DH. Carey JC, et al. Am J Med Genet. 2002 Dec 30;115(4):205-20. doi: 10.1002/ajmg.10987. Am J Med Genet. 2002. PMID: 12503116 Review. No abstract available.
279 results