Publications
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Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan." J. Med. Genet.. 2008;45(7):479-80.
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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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Latex allergy in a patient with Kabuki syndrome. Case report." Rev Bras Anestesiol. 2010;60(5):544-50. Abstract
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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
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Long-term follow-up of three individuals with Kabuki syndrome." Am. J. Med. Genet. A. 2004;125A(2):191-200. Abstract
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Long-term hormone replacement therapy in two patients with Kabuki syndrome and growth hormone deficiency." Minerva Pediatr.. 2000;52(1-2):47-53. Abstract
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Long-term hormone replacement therapy in two patients with Kabuki syndrome and growth hormone deficiency." Minerva Pediatr.. 2000;52(1-2):47-53. Abstract
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Long-term outcome of epilepsy in Kabuki syndrome." Seizure. 2011;20(8):650-4. Abstract
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Lower lip pits and anorectal anomalies in Kabuki syndrome." Am. J. Med. Genet.. 1999;86(3):282-4. 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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Lower Lip Pits: Van der Woude or Kabuki Syndrome?" Cleft Palate Craniofac. J.. 2013. Abstract
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Low-grade fibromyxoid sarcoma: yet another malignancy associated with Kabuki syndrome." Clin. Dysmorphol.. 2008;17(3):199-202.
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