Publications

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Kurosawa K, Kawame H, Ochiai Y, Nakashima M, Tohma T, Ohashi H. "Patellar dislocation in Kabuki syndrome." Am. J. Med. Genet.. 2002;108(2):160-3. Abstract
Kuroki Y, Suzuki Y, Chyo H, Hata A, Matsui I. "A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation." J. Pediatr.. 1981;99(4):570-3. Abstract
Kuniba H, Sato D, Yoshiura K-ichiro, et al. "No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome." Am. J. Med. Genet. A. 2008;146A(14):1893-6.
Kuniba H, Tsuda M, Nakashima M, et al. "Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan." J. Med. Genet.. 2008;45(7):479-80.
Kuniba H, Yoshiura K-ichiro, Kondoh T, et al. "Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome." J. Hum. Genet.. 2009;54(5):304-9. Abstract
Kung GC, Chang PM, Sklansky MS, Randolph LM. "Hypoplastic left heart syndrome in patients with Kabuki syndrome." Pediatr Cardiol. 2010;31(1):138-41. Abstract
Kumar JM, Gowrishankar K, Vasanthi T, Kumar AR, Jayasudha T. "Isochromosome X mosaicism in a child with Kabuki syndrome phenotype: A rare cytogenetic association." Indian J Hum Genet. 2011;17(3):241-3. Abstract
Kulkarni ML, Shetty SK, Chandrasekar VK, Kulkarni PM. "Kabuki make-up syndrome." Indian J Pediatr. 2004;71(9):857-9. Abstract
Kulkarni ML. "Kabuki makeup syndrome." Indian Pediatr. 2003;40(7):680.
Kuandykov EU, Il'ina EG. "[The Kabuki syndrome]." Pediatriia. 1990;(1):105-7.
Ku C-S, Naidoo N, Pawitan Y. "Revisiting Mendelian disorders through exome sequencing." Hum. Genet.. 2011;129(4):351-70. Abstract
Kramer S, Seitz B, Käsmann-Kellner B. "[Tapetoretinal dystrophy and unusual facial features in an 8-year-old boy]." Ophthalmologe. 2010;107(2):182-5. Abstract
Koutras A, Fisher S. "Niikawa-Kuroki syndrome: a new malformation syndrome of postnatal dwarfism, mental retardation, unusual face, and protruding ears." J. Pediatr.. 1982;101(3):417-9.
Kokitsu-Nakata NM, Guion-Almeida ML. "Aural atresia and microtia in Kabuki syndrome." Am. J. Med. Genet. A. 2003;118A(4):391-3.
Kokitsu-Nakata NM, Vendramini S, Guion-Almeida ML. "Lower lip pits and anorectal anomalies in Kabuki syndrome." Am. J. Med. Genet.. 1999;86(3):282-4. Abstract
Kokitsu-Nakata NM, Petrin AL, Heard JP, et al. "Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome." Am. J. Med. Genet. A. 2012;158A(8):2003-8. Abstract
Kobayashi ET, Maruyama Y, Kobayashi K. "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
Kobayashi O, Sakuragawa N. "Inheritance in Kabuki make-up (Niikawa-Kuroki) syndrome." Am. J. Med. Genet.. 1996;61(1):92-3.
Kluijt I, van Dorp DB, Kwee ML, et al. "Kabuki syndrome - report of six cases and review of the literature with emphasis on ocular features." Ophthalmic Genet.. 2000;21(1):51-61. Abstract
Kittayalaksakun S, Suttipong W, Srivuthana S. "Children with clinical central diabetes insipidus at King Chulalongkorn Memorial Hospital." J Med Assoc Thai. 2005;88 Suppl 4:S17-22. Abstract
Kimberley KW, Morris CA, Hobart HH. "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
Kim SJ, Cho SY, Maeng SH, et al. "A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome." Korean J Pediatr. 2013;56(8):355-8. Abstract
Kim NG, Kim HJ, Hwang J-M. "Strabismus and poor stereoacuity associated with Kabuki syndrome." Korean J Ophthalmol. 2011;25(2):136-8. Abstract
Keith BP, Robertson DL, Hentges KE. "Locus heterogeneity disease genes encode proteins with high interconnectivity in the human protein interaction network." Front Genet. 2014;5:434. Abstract
Kawame H, Hannibal MC, Hudgins L, Pagon RA. "Phenotypic spectrum and management issues in Kabuki syndrome." J. Pediatr.. 1999;134(4):480-5. Abstract