Publications
Filters: First Letter Of Last Name is K [Clear All Filters]
Patellar dislocation in Kabuki syndrome." Am. J. Med. Genet.. 2002;108(2):160-3. Abstract
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No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome." Am. J. Med. Genet. A. 2008;146A(14):1893-6.
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Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan." J. Med. Genet.. 2008;45(7):479-80.
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Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome." J. Hum. Genet.. 2009;54(5):304-9. Abstract
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Hypoplastic left heart syndrome in patients with Kabuki syndrome." Pediatr Cardiol. 2010;31(1):138-41. Abstract
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Isochromosome X mosaicism in a child with Kabuki syndrome phenotype: A rare cytogenetic association." Indian J Hum Genet. 2011;17(3):241-3. Abstract
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Kabuki make-up syndrome." Indian J Pediatr. 2004;71(9):857-9. Abstract
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Kabuki makeup syndrome." Indian Pediatr. 2003;40(7):680.
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[The Kabuki syndrome]." Pediatriia. 1990;(1):105-7.
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Revisiting Mendelian disorders through exome sequencing." Hum. Genet.. 2011;129(4):351-70. 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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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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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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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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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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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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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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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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Phenotypic spectrum and management issues in Kabuki syndrome." J. Pediatr.. 1999;134(4):480-5. Abstract
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