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Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children.
Galán-Gómez E, Cardesa-García JJ, Campo-Sampedro FM, Salamanca-Maesso C, Martínez-Frías ML, Frías JL. Galán-Gómez E, et al. Am J Med Genet. 1995 Nov 20;59(3):276-82. doi: 10.1002/ajmg.1320590303. Am J Med Genet. 1995. PMID: 8599349 Review.
Are blastogenetic anomalies sporadic?
Martínez-Frías ML, Frías JL. Martínez-Frías ML, et al. Am J Med Genet. 1997 Feb 11;68(4):381-5. Am J Med Genet. 1997. PMID: 9021006
VACTERL as primary, polytopic developmental field defects.
Martínez-Frías ML, Frías JL. Martínez-Frías ML, et al. Am J Med Genet. 1999 Mar 5;83(1):13-6. doi: 10.1002/(sici)1096-8628(19990305)83:1<13::aid-ajmg4>3.3.co;2-o. Am J Med Genet. 1999. PMID: 10076879
286 results