Publications
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"Hardikar syndrome: long term outcome of a rare genetic disorder." Am. J. Med. Genet. A. 2008;146A(19):2468-72. Abstract
"Hepatic fibrosis in Kabuki syndrome." Am. J. Med. Genet. A. 2004;124A(2):209-12. Abstract
"Membranoproliferative glomerulonephritis Type 3 associated with Kabuki syndrome." Clin. Nephrol.. 2012. Abstract
"The dermatoglyphic pattern of the Kabuki make-up syndrome." Clin. Genet.. 1982;21(5):315-20. Abstract
"Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients." Am. J. Med. Genet.. 1988;31(3):565-89. Abstract
"Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome." Nat. Genet.. 2010;42(9):790-3. Abstract
"[Intervention to reduce the difficulty in kanji copying related to the visuo-spatial dysfunction in patients with Williams syndrome]." No To Hattatsu. 2010;42(5):353-8. Abstract


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