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Polytopic anomalies with agenesis of the lower vertebral column.
Bohring A, Lewin SO, Reynolds JF, Voigtländer T, Rittinger O, Carey JC, Köpernik M, Smith R, Zackai EH, Leonard NJ, Gritter HL, Bamforth JS, Okun N, McLeod DR, Super M, Powell P, Mundlos S, Hennekam RC, van Langen IM, Viskochil DH, Wiedemann HR, Opitz JM. Bohring A, et al. Among authors: viskochil dh. Am J Med Genet. 1999 Nov 19;87(2):99-114. Am J Med Genet. 1999. PMID: 10533024 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
SPRED 1 mutations in a neurofibromatosis clinic.
Muram-Zborovski TM, Stevenson DA, Viskochil DH, Dries DC, Wilson AR, Rong Mao. Muram-Zborovski TM, et al. Among authors: viskochil dh. J Child Neurol. 2010 Oct;25(10):1203-9. doi: 10.1177/0883073809359540. Epub 2010 Feb 22. J Child Neurol. 2010. PMID: 20179001 Free PMC article.
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. 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.
Personal journeys to and in human genetics and dysmorphology.
Schwartz CE, Aylsworth AS, Allanson J, Battaglia A, Carey JC, Curry CJ, Davies KE, Eichler EE, Graham JM Jr, Hall B, Hall JG, Holmes LB, Hoyme HE, Hunter A, Innis J, Johnson J, Keppler-Noreuil KM, Leroy JG, Moore C, Nelson DL, Neri G, Opitz JM, Picketts D, Raymond FL, Shalev SA, Stevenson RE, Stumpel CTRM, Sutherland G, Viskochil DH, Weaver DD, Zackai EH. Schwartz CE, et al. Among authors: viskochil dh. Am J Med Genet A. 2024 Jun;194(6):e63514. doi: 10.1002/ajmg.a.63514. Epub 2024 Feb 8. Am J Med Genet A. 2024. PMID: 38329159
225 results