Publications
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The Niikawa-Kuroki (Kabuki make-up) syndrome in an American black." Am. J. Ophthalmol.. 1986;102(5):667-8.
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[An operative case of Kabuki make-up syndrome with ASD and pulmonary hypertension]." Kyobu Geka. 1985;38(9):737-40.
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Emanuel syndrome: A rare disorder that is often confused with Kabuki syndrome." J Pediatr Neurosci. 2015;10(2):194-5.
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Hyperinsulinism in developmental syndromes." Endocr Dev. 2009;14:95-113. Abstract
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Quadrigeminal cistern arachnoid cyst in a patient with Kabuki syndrome." Pediatr. Neurol.. 2006;34(6):478-80. Abstract
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Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited." Am. J. Med. Genet. A. 2016;170(5):1333-8. Abstract
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Kabuki syndrome: diagnostic and treatment considerations." Ment Health Fam Med. 2012;9(3):171-9. Abstract
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A case report of Kabuki make-up syndrome with cytomegalovirus infection." J. Infect.. 2004;48(3):278-82. Abstract
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Kabuki make-up syndrome and report of a case with hydrocephalus." Childs Nerv Syst. 1998;14(6):230-5. Abstract
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Phenotypic spectrum and management issues in Kabuki syndrome." J. Pediatr.. 1999;134(4):480-5. Abstract
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A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome." Korean J Pediatr. 2013;56(8):355-8. Abstract
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Strabismus and poor stereoacuity associated with Kabuki syndrome." Korean J Ophthalmol. 2011;25(2):136-8. Abstract
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BAC-FISH refutes report of an 8p22-8p23.1 inversion or duplication in 8 patients with Kabuki syndrome." BMC Med. Genet.. 2006;7:46. Abstract
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Children with clinical central diabetes insipidus at King Chulalongkorn Memorial Hospital." J Med Assoc Thai. 2005;88 Suppl 4:S17-22. Abstract
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Kabuki syndrome - report of six cases and review of the literature with emphasis on ocular features." Ophthalmic Genet.. 2000;21(1):51-61. Abstract
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A longitudinal evaluation of craniofacial growth in a patient with Kabuki make-up syndrome: a case report." Eur J Orthod. 2001;23(2):205-13. Abstract
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Inheritance in Kabuki make-up (Niikawa-Kuroki) syndrome." Am. J. Med. Genet.. 1996;61(1):92-3.
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Aural atresia and microtia in Kabuki syndrome." Am. J. Med. Genet. A. 2003;118A(4):391-3.
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Lower lip pits and anorectal anomalies in Kabuki syndrome." Am. J. Med. Genet.. 1999;86(3):282-4. Abstract
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Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome." Am. J. Med. Genet. A. 2012;158A(8):2003-8. Abstract
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Niikawa-Kuroki syndrome: a new malformation syndrome of postnatal dwarfism, mental retardation, unusual face, and protruding ears." J. Pediatr.. 1982;101(3):417-9.
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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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Revisiting Mendelian disorders through exome sequencing." Hum. Genet.. 2011;129(4):351-70. Abstract
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[The Kabuki syndrome]." Pediatriia. 1990;(1):105-7.
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