Publications
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Pathologic aneurysmal dilation of the ascending aorta and dilation of the main pulmonary artery in patients with Kabuki syndrome: valve-sparing aortic root replacement." Congenital heart disease. 2007;2(6):424-8. Abstract
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Acquired myelinated nerve fibers in association with optic disk drusen." J AAPOS. 2010;14(6):544-7. Abstract
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Neonatal syndromes of polyendocrinopathy." Endocrinol. Metab. Clin. North Am.. 2002;31(2):283-93, v. Abstract
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Kabuki syndrome and diaphragmatic defects: a frequent association in non-Asian patients?" Am. J. Med. Genet.. 2000;91(2):164-5.
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Sequence characterization of a newly identified human alpha-tubulin gene (TUBA2)." Genomics. 1998;47(1):125-30. Abstract
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Congenital heart defects in Kabuki syndrome." Am. J. Med. Genet.. 2001;100(4):269-74. Abstract
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Hypoplastic left heart syndrome in patients with Kabuki syndrome." Pediatr Cardiol. 2010;31(7):1111-3.
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What Is New in Genetics of Congenital Heart Defects?" Frontiers in Pediatrics. 2016;4952140A825658359945621359321121513093155A167A958171004290642879352219638418918158A33104424142481478096159323578138(381).
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Unusual Endoscopic Findings in Children: Esophageal and Gastric Polyps: Three Cases Report." Medicine (Baltimore). 2016;95(3):e2539. Abstract
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Epilepsy and polymicrogyria in Kabuki make-up (Niikawa-Kuroki) syndrome." Pediatr. Neurol.. 1999;21(2):566-8. Abstract
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Temporo-occipital spikes: are they so typical for Kabuki syndrome?" Pediatr. Neurol.. 2004;31(5):379; author reply 379-80.
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Trans-tail regulation of MLL4-catalyzed H3K4 methylation by H4R3 symmetric dimethylation is mediated by a tandem PHD of MLL4." Genes Dev.. 2012;26(24):2749-62. Abstract
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The Kabuki make-up (Niikawa-Kuroki) syndrome and isolated transient hyperphosphatasemia." Clin. Genet.. 1994;45(6):330-1.
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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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Large congenital follicular ovarian cyst in a girl with Kabuki syndrome." Am. J. Med. Genet.. 1996;65(1):90-91.
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Kabuki syndrome: clinical and molecular diagnosis in the first year of life." Arch. Dis. Child.. 2015;100(2):158-64. Abstract
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Three patients with ring (X) chromosomes and a severe phenotype." J. Med. Genet.. 1993;30(6):482-6. Abstract
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Expressive language in children with Kabuki syndrome." Am. J. Med. Genet. A. 2005;132A(3):256-9. Abstract
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Lower Lip Pits: Van der Woude or Kabuki Syndrome?" Cleft Palate Craniofac. J.. 2013. Abstract
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A case of Kabuki (Niikawa-Kuroki) syndrome associated with manifestations resembling C-trigonocephaly syndrome." Am. J. Med. Genet. A. 2004;130A(4):389-92. Abstract
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