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Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.
Pierpont ME, Magoulas PL, Adi S, Kavamura MI, Neri G, Noonan J, Pierpont EI, Reinker K, Roberts AE, Shankar S, Sullivan J, Wolford M, Conger B, Santa Cruz M, Rauen KA. Pierpont ME, et al. Among authors: rauen ka. Pediatrics. 2014 Oct;134(4):e1149-62. doi: 10.1542/peds.2013-3189. Epub 2014 Sep 1. Pediatrics. 2014. PMID: 25180280 Free PMC article. Review.
HRAS and the Costello syndrome.
Rauen KA. Rauen KA. Clin Genet. 2007 Feb;71(2):101-8. doi: 10.1111/j.1399-0004.2007.00743.x. Clin Genet. 2007. PMID: 17250658 Review.
Neurological complications of cardio-facio-cutaneous syndrome.
Yoon G, Rosenberg J, Blaser S, Rauen KA. Yoon G, et al. Among authors: rauen ka. Dev Med Child Neurol. 2007 Dec;49(12):894-9. doi: 10.1111/j.1469-8749.2007.00894.x. Dev Med Child Neurol. 2007. PMID: 18039235 Free article.
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.
Rauen KA, Schoyer L, McCormick F, Lin AE, Allanson JE, Stevenson DA, Gripp KW, Neri G, Carey JC, Legius E, Tartaglia M, Schubbert S, Roberts AE, Gelb BD, Shannon K, Gutmann DH, McMahon M, Guerra C, Fagin JA, Yu B, Aoki Y, Neel BG, Balmain A, Drake RR, Nolan GP, Zenker M, Bollag G, Sebolt-Leopold J, Gibbs JB, Silva AJ, Patton EE, Viskochil DH, Kieran MW, Korf BR, Hagerman RJ, Packer RJ, Melese T. Rauen KA, et al. Am J Med Genet A. 2010 Jan;152A(1):4-24. doi: 10.1002/ajmg.a.33183. Am J Med Genet A. 2010. PMID: 20014119 Free PMC article.
119 results