Publications
[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
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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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Insight into the genetic cause underlying Kabuki syndrome." Clin. Genet.. 2010. Abstract
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Hypoplastic left heart syndrome in patients with Kabuki syndrome." Pediatr Cardiol. 2010;31(7):1111-3.
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[Kabuki syndrome case report]." Zhonghua Er Ke Za Zhi. 2010;48(11):868-70.
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Seizures and EEG pattern in Kabuki syndrome." Brain Dev.. 2010;32(10):829-34. Abstract
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[A case of Kabuki syndrome admitted for acute diarrhea and growth retardation in a French hospital in tropical area]." Arch Pediatr. 2010;17(5):588-93. Abstract
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Congenital polymicrogyria including the perisylvian region in early childhood." Congenit Anom (Kyoto). 2010;50(1):64-7. Abstract
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Kabuki syndrome and cancer in two patients." Am. J. Med. Genet. A. 2010;152A(6):1536-9. Abstract
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Hypoplastic left heart syndrome in patients with Kabuki syndrome." Pediatr Cardiol. 2010;31(1):138-41. Abstract
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A new case of MOMO syndrome." Clin. Dysmorphol.. 2010;19(1):1-4. Abstract
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[Tapetoretinal dystrophy and unusual facial features in an 8-year-old boy]." Ophthalmologe. 2010;107(2):182-5. Abstract
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MLL2 mutation spectrum in 45 patients with Kabuki syndrome." Hum. Mutat.. 2010. Abstract
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Acquired myelinated nerve fibers in association with optic disk drusen." J AAPOS. 2010;14(6):544-7. Abstract
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Congenital lymphatic dysplasia in Kabuki syndrome: first report of an unusual association." Lymphology. 2010;43(4):188-91. Abstract
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Craniosynostosis in Kabuki syndrome." J Neurosurg Pediatr. 2010;6(2):198-201. Abstract
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Tremor and deep brain nuclei hyperintensities in Kabuki syndrome." Pediatr. Neurol.. 2010;43(2):148-50. Abstract
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Esotropia in kabuki syndrome." J Pediatr Ophthalmol Strabismus. 2010;47:e1-3. Abstract
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Successful treatment with rituximab of refractory idiopathic thrombocytopenic purpura in a patient with Kabuki syndrome." Int. J. Hematol.. 2009;90(2):174-6. Abstract
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The first case of Niikawa-Kuroki syndrome in Kazakhstan associated with café au lait spots." G Ital Dermatol Venereol. 2009;144(5):613-5. Abstract
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Further evidence of dominant inheritance of Kabuki syndrome." Clin. Dysmorphol.. 2009;18(4):215-7.
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Dental evaluation of Kabuki syndrome patients." Cleft Palate Craniofac. J.. 2009;46(6):668-73. Abstract
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Kabuki make-up syndrome with unilateral renal agenesis." Turk. J. Pediatr.. 2009;51(3):298-300. Abstract
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