Publications
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"Unexpected life-threatening complications in Kabuki syndrome." Am. J. Med. Genet.. 2000;94(2):170-3. Abstract
"Unmasking Kabuki syndrome." Clin. Genet.. 2012. Abstract
"Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH." Clin. Genet.. 2003;64(6):509-16. Abstract


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