Publications
What syndrome is this? Kabuki make-up syndrome." Pediatr Dermatol. 2007;24(3):309-12.
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What Is New in Genetics of Congenital Heart Defects?" Frontiers in Pediatrics. 2016;4952140A825658359945621359321121513093155A167A958171004290642879352219638418918158A33104424142481478096159323578138(381).
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Variable expressivity in a family with Kabuki make-up (Niikawa-Kuroki) syndrome." Chang Gung Med J. 2004;27(4):307-11. Abstract
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An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity." American Journal of Medical Genetics Part A. 2016;170(12):3282-3288.
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An unusual presentation of Kabuki syndrome: Clinical overlap with CHARGE syndrome." Eur J Med Genet. 2014;57(9):510-2. Abstract
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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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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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Unmasking Kabuki syndrome." Clin. Genet.. 2012. Abstract
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Unexpected life-threatening complications in Kabuki syndrome." Am. J. Med. Genet.. 2000;94(2):170-3. Abstract
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Typical facial gestalt in X-linked Kabuki syndrome." American Journal of Medical Genetics Part A. 2016;170(12):3363-3364.
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Two patients with Kabuki syndrome presenting with endocrine problems." J. Pediatr. Endocrinol. Metab.. 2001;14(2):215-20. Abstract
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Two patients with arthrogryposis-renal tubular dysfunction-cholestasis syndrome in a Japanese family." Pediatr Int. 2006;48(4):416-9.
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Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome." Am. J. Med. Genet. A. 2006;140(2):170-3. Abstract
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Tremor and deep brain nuclei hyperintensities in Kabuki syndrome." Pediatr. Neurol.. 2010;43(2):148-50. Abstract
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Treatment of hip dislocation in Kabuki syndrome: a report of three hips in two patients." J Pediatr Orthop. 2007;27(1):37-40. Abstract
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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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Three patients with ring (X) chromosomes and a severe phenotype." J. Med. Genet.. 1993;30(6):482-6. Abstract
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A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A." Am. J. Med. Genet. A. 2014. Abstract
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Thirteen cases of Niikawa-Kuroki syndrome: report and review with emphasis on medical complications and preventive management." Am. J. Med. Genet.. 1998;79(2):112-20. 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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Temporo-occipital spikes: a typical EEG finding in Kabuki syndrome." Pediatr. Neurol.. 2004;30(1):67-70. Abstract
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[Tapetoretinal dystrophy and unusual facial features in an 8-year-old boy]." Ophthalmologe. 2010;107(2):182-5. Abstract
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Symptomatic Chiari I malformation in Kabuki syndrome." Am. J. Med. Genet. A. 2005;132A(3):273-5. Abstract
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