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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. Among authors: blake kd. 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. Among authors: blake kd. Clin Genet. 2010 Mar;77(3):232-40. doi: 10.1111/j.1399-0004.2009.01334.x. Clin Genet. 2010. PMID: 20447140
Support for the Diagnosis of CHARGE Syndrome.
van Ravenswaaij-Arts CMA, Blake K, Martin DM. van Ravenswaaij-Arts CMA, et al. JAMA Otolaryngol Head Neck Surg. 2017 Jun 1;143(6):634-635. doi: 10.1001/jamaoto.2016.4762. JAMA Otolaryngol Head Neck Surg. 2017. PMID: 28241200 No abstract available.
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.
Clinical utility gene card for: CHARGE syndrome - update 2015.
van Ravenswaaij-Arts CM, Blake K, Hoefsloot L, Verloes A. van Ravenswaaij-Arts CM, et al. Eur J Hum Genet. 2015 Nov;23(11). doi: 10.1038/ejhg.2015.15. Epub 2015 Feb 18. Eur J Hum Genet. 2015. PMID: 25689928 Free PMC article. No abstract available.
Cranial nerve manifestations in CHARGE syndrome.
Blake KD, Hartshorne TS, Lawand C, Dailor AN, Thelin JW. Blake KD, et al. Am J Med Genet A. 2008 Mar 1;146A(5):585-92. doi: 10.1002/ajmg.a.32179. Am J Med Genet A. 2008. PMID: 18241060
135 results