Publications
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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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Kabuki Makeup Syndrome Associated With Megaureter." Pediatrics International. 1987;29(1):182-185.
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Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients." Am. J. Med. Genet.. 1988;31(3):565-89. Abstract
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Kabuki makeup syndrome (Niikawa-Kuroki syndrome) in a black child." Ann Ophthalmol. 1989;21(8):312-5. Abstract
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Three patients with ring (X) chromosomes and a severe phenotype." J. Med. Genet.. 1993;30(6):482-6. Abstract
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Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome." Am. J. Med. Genet.. 1993;47(3):423-5. Abstract
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The Kabuki make-up (Niikawa-Kuroki) syndrome and isolated transient hyperphosphatasemia." Clin. Genet.. 1994;45(6):330-1.
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Kabuki (Niikawa-Kuroki) syndrome and paracentric inversion of the short arm of chromosome 4." Am. J. Med. Genet.. 1994;53(2):204-5.
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Kabuki make-up (Niikawa-Kuroki) syndrome in the Byelorussian register of congenital malformations: ten new observations." Am. J. Med. Genet.. 1995;56(2):127-31. Abstract
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Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children." Am. J. Med. Genet.. 1995;59(3):276-82. Abstract
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Large congenital follicular ovarian cyst in a girl with Kabuki syndrome." Am. J. Med. Genet.. 1996;65(1):90-91.
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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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CNS malformation in a child with Kabuki (Niikawa-Kuroki) syndrome: report and review." Am. J. Med. Genet.. 1997;72(2):205-9. Abstract
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Hypoplastic claviculae in the Kabuki (Niikawa-Kuroki) syndrome." Genet. Couns.. 1998;9(1):57-8.
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[Down syndrome associated with clinical manifestations of Kabuki syndrome: report of a case]." J Pediatr (Rio J). 1999;75(5):367-9. Abstract
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Niikawa-Kuroki (Kabuki) syndrome in two siblings." Minerva Pediatr.. 2001;53(1):43-8. Abstract
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Microtia associated with the Kabuki (Niikawa-Kuroki) syndrome." Otolaryngol Head Neck Surg. 2001;125(5):557-8.
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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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Patient with Kabuki syndrome and acute leukemia." Am. J. Med. Genet. A. 2003;122A(1):76-9. 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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On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS." Am. J. Med. Genet. A. 2004;128A(2):170-2.
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Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome." Am. J. Med. Genet. A. 2004;127A(2):118-27. Abstract
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