Publications

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Zimmermann T, Brasch F, Rauch A, Stachel D, Holter W, Beck JD. "CR10/80--Lymphoid interstitial pneumonia and Kabuki-Syndrome in a young man." Paediatr Respir Rev. 2006;7 Suppl 1:S329.
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
Zannolli R, Buoni S, Macucci F, et al. "Kabuki syndrome with trichrome vitiligo, ectodermal defect and hypogammaglobulinemia A and G." Brain Dev.. 2007;29(6):373-6. Abstract
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Yuan S-M. "Congenital heart defects in Kabuki syndrome." Cardiol J. 2013;20(2):121-4. Abstract
Yoshioka S, Takano T, Matsuwake K, Sokoda T, Takeuchi Y. "A Japanese patient with Kabuki syndrome and unilateral perisylvian cortical dysplasia." Brain Dev.. 2010. Abstract
Yano S, Matsuishi T, Yoshino M, Kato H, Kojima K. "Cerebellar and brainstem "atrophy" in a patient with Kabuki make-up syndrome." Am. J. Med. Genet.. 1997;71(4):486-7.
Yang X-jing, Zeng Y, Xiong F. "[Kabuki syndrome case report]." Zhonghua Er Ke Za Zhi. 2010;48(11):868-70.
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Wilson GN. "Thirteen cases of Niikawa-Kuroki syndrome: report and review with emphasis on medical complications and preventive management." Am. J. Med. Genet.. 1998;79(2):112-20. Abstract
White SM, Thompson EM, Kidd A, et al. "Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome." Am. J. Med. Genet. A. 2004;127A(2):118-27. Abstract
Wessels MW, Brooks AS, Hoogeboom J, Niermeijer MF, Willems PJ. "Kabuki syndrome: a review study of three hundred patients." Clin. Dysmorphol.. 2002;11(2):95-102. Abstract
Wellesley DG, Slaney S. "Kabuki make-up and Turner syndromes in the same patient." Clin. Dysmorphol.. 1994;3(4):297-300. Abstract
Watanabe T, Miyakawa M, Satoh M, Abe T, Oda Y. "Kabuki make-up syndrome associated with chronic idiopathic thrombocytopenic purpura." Acta Paediatr Jpn. 1994;36(6):727-9. Abstract
Wappler F, Standl T. "[Special anesthesiological aspects in patients with Niikawa-Kuroki ("Kabuki Make-Up") syndrome]." Anasthesiol Intensivmed Notfallmed Schmerzther. 1997;32(3):197-200. Abstract
Wang LC, Chiu IS, Wang PJ, et al. "Kabuki make-up syndrome associated with congenital heart disease." Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1994;35(1):63-9. Abstract
Wallerstein R, Sugalski RD. "A new case of MOMO syndrome." Clin. Dysmorphol.. 2010;19(1):1-4. Abstract
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Verrotti A, Agostinelli S, Cirillo C, et al. "Long-term outcome of epilepsy in Kabuki syndrome." Seizure. 2011;20(8):650-4. Abstract
Verloes A, Lesenfants S, Philippet B, Iyawa A, Laloux F, Koulischer L. "Microcephaly, macrotia, unusual mimics and mental retardation syndrome: new syndrome or variant of De Lange type 2 syndrome." Genet. Couns.. 1996;7(4):277-82. Abstract
Vaux KK, Jones KL, Jones MC, Schelley S, Hudgins L. "Developmental outcome in Kabuki syndrome." Am. J. Med. Genet. A. 2005;132A(3):263-4. Abstract
Vaux KK, Hudgins L, Bird LM, et al. "Neonatal phenotype in Kabuki syndrome." Am. J. Med. Genet. A. 2005;132A(3):244-7. Abstract
Van Lierde KM, Van Borsel J, Van Cauwenberge P. "Speech patterns in Kabuki make-up syndrome: a case report." J Commun Disord. 2000;33(6):447-61; quiz 461-2. Abstract
Van Hagen JM, Kwee ML, Madan K, Nieuwint AW, Pals G, ten Kate LP. "Kabuki syndrome in son and low grade mosaic 45,X/46,XX in mother." Genet. Couns.. 1996;7(3):201-6. Abstract
Valdez-Geraldo CM, García-Arias S, Valdez-Geraldo BM, García-Torres O. "[Kabuki make-up syndrome. A case report with cognitive failure and haematologic features]." Rev Neurol. 2009;48(5):278-9.
Vaccaro M, Salpietro DC, Briuglia S, Merlino MV, Guarneri F, Dallapiccola B. "Cutis laxa in Kabuki make-up syndrome." J. Am. Acad. Dermatol.. 2005;53(5 Suppl 1):S247-51. Abstract
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Utine GE, Alanay Y, Atkaş D, Boduroğlu K, Alikaşifoğlu M, Tunçbilek E. "Kabuki syndrome and trisomy 10p." Genet. Couns.. 2008;19(3):291-300. Abstract
Upton S, Stadter CS, Landis P, Wulfsberg EA. "Speech characteristics in the Kabuki syndrome." Am. J. Med. Genet. A. 2003;116A(4):338-41. Abstract