Publications
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Genetic landmarks through philately--Kabuki theater and Kabuki syndrome." Clin. Genet.. 1999;56(2):116-7.
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Genetic syndromes caused by mutations in epigenetic genes." Hum. Genet.. 2013;132(4):359-83. Abstract
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Genetics and cardiac anomalies: the heart of the matter." Indian J Pediatr. 2002;69(4):321-32. Abstract
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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
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Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome." Am. J. Med. Genet. A. 2004;127A(2):118-27. Abstract
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Growth hormone deficiency and premature thelarche in a female infant with kabuki makeup syndrome." Horm. Res.. 1995;43(6):303-6. Abstract
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Growth Hormone Stimulation Tests in Children with Kabuki Syndrome." Hormone Research in Paediatrics. 2016;86(5):319-324.
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Growth pattern in Kabuki syndrome with a KMT2D mutation." American Journal of Medical Genetics Part A. 2016;170(12):3172-3179.
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