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Guidelines in CHARGE syndrome and the missing link: Cranial imaging.
de Geus CM, Free RH, Verbist BM, Sival DA, Blake KD, Meiners LC, van Ravenswaaij-Arts CMA. de Geus CM, et al. Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):450-464. doi: 10.1002/ajmg.c.31593. Epub 2017 Nov 23. Am J Med Genet C Semin Med Genet. 2017. PMID: 29168326 Free PMC article. Review.
Death in CHARGE syndrome after the neonatal period.
Bergman JE, Blake KD, Bakker MK, du Marchie Sarvaas GJ, Free RH, van Ravenswaaij-Arts CM. Bergman JE, et al. Clin Genet. 2010 Mar;77(3):232-40. doi: 10.1111/j.1399-0004.2009.01334.x. Clin Genet. 2010. PMID: 20447140
Clinical utility gene card for: CHARGE syndrome.
Blake K, van Ravenswaaij-Arts CM, Hoefsloot L, Verloes A. Blake K, et al. Eur J Hum Genet. 2011 Sep;19(9). doi: 10.1038/ejhg.2011.45. Epub 2011 Mar 16. Eur J Hum Genet. 2011. PMID: 21407266 Free PMC article. No abstract available.
Mutation update on the CHD7 gene involved in CHARGE syndrome.
Janssen N, Bergman JE, Swertz MA, Tranebjaerg L, Lodahl M, Schoots J, Hofstra RM, van Ravenswaaij-Arts CM, Hoefsloot LH. Janssen N, et al. Hum Mutat. 2012 Aug;33(8):1149-60. doi: 10.1002/humu.22086. Epub 2012 Apr 16. Hum Mutat. 2012. PMID: 22461308 Review.
158 results