Publications
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Premature thelarche in Kabuki make-up syndrome." Acta Paediatr Jpn. 1994;36(1):104-6. Abstract
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Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort." Eur. J. Hum. Genet.. 2005;13(6):716-20. Abstract
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De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome." Am. J. Med. Genet. A. 2014;164(7):1744-9. Abstract
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Craniofacial and dental characteristics of Kabuki syndrome: nine years cephalometric follow-up." J Clin Pediatr Dent. 2012;36(4):393-400. Abstract
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Kabuki syndrome and cancer in two patients." Am. J. Med. Genet. A. 2010;152A(6):1536-9. Abstract
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Dominant inheritance of Kabuki make-up syndrome." Am. J. Med. Genet.. 1997;73(1):19-23. Abstract
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Deafness and Mondini dysplasia in Kabuki (Niikawa-Kuroki) syndrome. Report of a case and review of the literature." Genet. Couns.. 1997;8(2):99-105. Abstract
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Successful treatment with rituximab of refractory idiopathic thrombocytopenic purpura in a patient with Kabuki syndrome." Int. J. Hematol.. 2009;90(2):174-6. Abstract
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Kabuki syndrome and perisylvian cortical dysplasia in a Turkish girl." J Pediatr Neurosci. 2013;8(3):259-60.
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Niikawa-Kuroki (Kabuki) syndrome with congenital sensorineural deafness: evidence for a wide spectrum of inner ear abnormalities." Int. J. Pediatr. Otorhinolaryngol.. 2006;70(5):885-9. Abstract
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Dental evaluation of Kabuki syndrome patients." Cleft Palate Craniofac. J.. 2009;46(6):668-73. Abstract
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Latex allergy in a patient with Kabuki syndrome. Case report." Rev Bras Anestesiol. 2010;60(5):544-50. Abstract
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Predictive factors for success after transnasal endoscopic treatment of choanal atresia." Arch. Otolaryngol. Head Neck Surg.. 2008;134(1):57-61. Abstract
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A case of Kabuki make-up syndrome with central diabetes insipidus and growth hormone neurosecretory dysfunction." Acta Paediatr Jpn. 1994;36(4):412-5. Abstract
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Congenital corneal staphyloma as a complication of Kabuki syndrome." Am. J. Med. Genet. A. 2012;158A(8):2000-2. Abstract
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Congenital polymicrogyria including the perisylvian region in early childhood." Congenit Anom (Kyoto). 2010;50(1):64-7. Abstract
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Occlusal guidance of two Kabuki make-up syndrome patients: case reports." J Clin Pediatr Dent. 2004;28(2):113-8. Abstract
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