Publications

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Devriendt K, Lemli L, Craen M, de Zegher F. "Growth hormone deficiency and premature thelarche in a female infant with kabuki makeup syndrome." Horm. Res.. 1995;43(6):303-6. Abstract
White SM, Thompson EM, Kidd A, et al. "Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome." Am. J. Med. Genet. A. 2004;127A(2):118-27. Abstract
Schoumans J, Nordgren A, Ruivenkamp C, et al. "Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome." Eur. J. Hum. Genet.. 2005;13(2):260-3. Abstract
Prasad C, Chudley AE. "Genetics and cardiac anomalies: the heart of the matter." Indian J Pediatr. 2002;69(4):321-32. Abstract
Berdasco M, Esteller M. "Genetic syndromes caused by mutations in epigenetic genes." Hum. Genet.. 2013;132(4):359-83. Abstract
Mhanni AA, Chudley AE. "Genetic landmarks through philately--Kabuki theater and Kabuki syndrome." Clin. Genet.. 1999;56(2):116-7.