Publications
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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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Anaesthetic management in a case of Kabuki syndrome." Eur J Anaesthesiol. 2004;21(2):162-3.
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Anorectal anomalies associated with Kabuki make-up syndrome." J. Pediatr. Surg.. 1992;27(12):1600-2. Abstract
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Balloon angioplasty in a patient with Kabuki make-up syndrome." Pediatr Int. 2001;43(6):694-6.
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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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[A case report of Kabuki make-up syndrome with partial anomalous pulmonary venous return and ASD]." Rinsho Kyobu Geka. 1988;8(4):415-7.
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A case showing an association between type 1 diabetes mellitus and Kabuki syndrome." Diabetes Res. Clin. Pract.. 2003;60(1):25-31. Abstract
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Cleft hand in Kabuki make-up syndrome: case report." J Hand Surg Am. 2011;36(4):653-7. Abstract
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Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome." J. Pediatr.. 2013. Abstract
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Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis." J Clin Res Pediatr Endocrinol. 2016;8(1):105-6.
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Craniofacial and dental characteristics of Kabuki syndrome." Am. J. Med. Genet.. 2001;98(2):185-90. Abstract
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Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome." Nat. Genet.. 2010;42(9):790-3. Abstract
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Favorable seizure outcome in Kabuki make-up syndrome associated with epilepsy." J. Child Neurol.. 2003;18(8):549-51. Abstract
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Finger creases lend a hand in Kabuki syndrome." Eur J Med Genet. 2013. 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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Hypospadias in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome." J. Pediatr. Endocrinol. Metab.. 2001;14(6):803-5. Abstract
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An infantile case of Zellweger syndrome presented with Kabuki-like phenotype." Genet. Couns.. 2011;22(2):217-20. 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 West syndrome." Acta Paediatr Jpn. 1997;39(3):392-4. Abstract
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Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41." Am. J. Med. Genet.. 1999;86(3):285-8. Abstract
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