Publications
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Cleft hand in Kabuki make-up syndrome: case report." J Hand Surg Am. 2011;36(4):653-7. Abstract
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Coarctation of the aorta in Kabuki syndrome." Arch. Dis. Child.. 1994;70(6):512-4. Abstract
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Variable expressivity in a family with Kabuki make-up (Niikawa-Kuroki) syndrome." Chang Gung Med J. 2004;27(4):307-11. Abstract
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Kabuki make-up syndrome associated with an acquired hypogammaglobulinemia and anti-IgA antibodies." Clin Pediatr (Phila). 1996;35(5):273-6.
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Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome." J. Med. Genet.. 2005;42(1):49-53. Abstract
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Immune abnormalities are a frequent manifestation of Kabuki syndrome." Am. J. Med. Genet. A. 2005;135(3):278-81. Abstract
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Kabuki syndrome and Crohn disease in a child with familial hypocalciuric hypercalcemia." J. Pediatr. Endocrinol. Metab.. 2010;23(9):975-9. Abstract
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Kabuki make-up (Niikawa-Kuroki) syndrome: cognitive abilities and autistic features." Dev Med Child Neurol. 1997;39(7):487-90. Abstract
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Defective clavicles in Kabuki syndrome." Genet. Couns.. 2002;13(4):477-9.
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Enhancer deregulation in cancer and other diseases." BioEssays. 2016;38(10):1003-1015.
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[Niikawa-Kuroki syndrome. Which characteristics must the HNO doctor consider in its diagnosis]." HNO. 2005;53(3):253-6. Abstract
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Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome." Am. J. Med. Genet. A. 2011;155A(7):1511-6. Abstract
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Kabuki make-up syndrome (Niikawa-Kuroki syndrome) with cleft lip and palate." J Craniomaxillofac Surg. 1991;19(3):99-101. Abstract
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Successful long-term outcome of kidney transplantation in a child with Kabuki syndrome." Pediatr Transplant. 2006;10(1):105-7. Abstract
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Multiple Pilomatricomas in Kabuki Syndrome." Pediatr Dermatol. 2012. Abstract
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Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome." Am. J. Med. Genet.. 1989;33(3):376-81. Abstract
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Unexpected life-threatening complications in Kabuki syndrome." Am. J. Med. Genet.. 2000;94(2):170-3. Abstract
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