Publications

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E
Ezgu E, Eminoglu T, Okur I, et al. "An infantile case of Zellweger syndrome presented with Kabuki-like phenotype." Genet. Couns.. 2011;22(2):217-20. Abstract
H
Hoffman JD, Ciprero KL, Sullivan KE, et al. "Immune abnormalities are a frequent manifestation of Kabuki syndrome." Am. J. Med. Genet. A. 2005;135(3):278-81. Abstract
I
Igawa HH, Nishizawa N, Sugihara T, Inuyama Y. "Inner ear abnormalities in Kabuki make-up syndrome: report of three cases." Am. J. Med. Genet.. 2000;92(2):87-9. Abstract
K
Kobayashi O, Sakuragawa N. "Inheritance in Kabuki make-up (Niikawa-Kuroki) syndrome." Am. J. Med. Genet.. 1996;61(1):92-3.
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
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Ladha S. "Insight into the genetic cause underlying Kabuki syndrome." Clin. Genet.. 2010. Abstract
Lin J-L, Lee W-I, Huang J-L, et al. "Immunologic Assessment and KMT2D mutation detection in Kabuki Syndrome." Clin. Genet.. 2014. Abstract
Lo IF, Cheung LY, Ng AY, Lam ST. "Interstitial Dup(1p) with findings of Kabuki make-up syndrome." Am. J. Med. Genet.. 1998;78(1):55-7. Abstract
Loviglio MN, Beck CR, White JJ, et al. "Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics." Genome Medicine. 2016.
M
Ma KH, Chow SN, Yau FT. "Isolated adrenocorticotropin deficiency in a child with Kabuki syndrome." J. Pediatr. Endocrinol. Metab.. 2005;18(6):607-9. Abstract
Mervis CB, Becerra AM, Rowe ML, Hersh JH, Morris CA. "Intellectual abilities and adaptive behavior of children and adolescents with Kabuki syndrome: a preliminary study." Am. J. Med. Genet. A. 2005;132A(3):248-55. Abstract
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Nakamura M, Mizuno S, Kumagai T. "[Intervention to reduce the difficulty in kanji copying related to the visuo-spatial dysfunction in patients with Williams syndrome]." No To Hattatsu. 2010;42(5):353-8. Abstract
S
Silengo MC, Lerone M, Seri M, Romeo G. "Inheritance of Niikawa-Kuroki (Kabuki makeup) syndrome." Am. J. Med. Genet.. 1996;66(3):368.
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Zarate YA, Zhan H, Jones JR. "Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation." Mol Syndromol. 2012;3(4):180-4. Abstract