Publications
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Acute myocardial infarction in Kabuki syndrome: chance occurrence or a novel risk factor for premature atherosclerosis?" Int. J. Cardiol.. 2014;176(1):e26-8.
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Agenesis of the corpus callosum in Turner syndrome with ring X." Dev Med Child Neurol. 1997;39(2):119-24. Abstract
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Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome." J. Med. Genet.. 2005;42(1):49-53. Abstract
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CHARGE and Kabuki syndromes: A phenotypic and molecular link." Hum. Mol. Genet.. 2014. Abstract
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A child with Kabuki syndrome and primary sclerosing cholangitis successfully treated with ursodiol and cholestryamine." J. Pediatr. Gastroenterol. Nutr.. 2006;43(4):542-4.
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Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome." J. Pediatr.. 2013. Abstract
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Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand." Clin. Dysmorphol.. 2001;10(4):257-62. Abstract
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De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review." Am. J. Med. Genet. A. 2016;170(6):1613-21. Abstract
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Finger creases lend a hand in Kabuki syndrome." Eur J Med Genet. 2013. Abstract
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Further delineation of Kabuki syndrome in 48 well-defined new individuals." Am. J. Med. Genet. A. 2005;132A(3):265-72. 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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Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome." Sci Transl Med. 2014;6(256):256ra135. Abstract
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How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum." Eur. J. Hum. Genet.. 2012;20(4):381-8. Abstract
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Immunologic Assessment and KMT2D mutation detection in Kabuki Syndrome." Clin. Genet.. 2014. Abstract
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Kabuki make-up and Turner syndromes in the same patient." Clin. Dysmorphol.. 1994;3(4):297-300. Abstract
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Kabuki make-up syndrome associated with an acquired hypogammaglobulinemia and anti-IgA antibodies." Clin Pediatr (Phila). 1996;35(5):273-6.
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Kabuki make-up syndrome associated with chronic idiopathic thrombocytopenic purpura." Acta Paediatr Jpn. 1994;36(6):727-9. Abstract
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Kabuki make-up syndrome associated with congenital heart disease." Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1994;35(1):63-9. Abstract
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Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency." Clin. Genet.. 1998;53(4):308-12. Abstract
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The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients." Eur. J. Pediatr.. 1994;153(6):438-45. Abstract
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Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations." BMC Med. Genet.. 2015;16(1):26. Abstract
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Kabuki syndrome: a review study of three hundred patients." Clin. Dysmorphol.. 2002;11(2):95-102. Abstract
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Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation." Fertil. Steril.. 2008;89(6):1826.e5-7. Abstract
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