Publications
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"Kabuki Makeup Syndrome Associated With Megaureter." Pediatrics International. 1987;29(1):182-185.
"Hypothalamic pituitary complications in Kabuki syndrome." Pituitary. 2012. Abstract
"A case of Kabuki syndrome presenting West syndrome." Brain Dev.. 2007;29(6):380-2. Abstract
"Kabuki syndrome and neonatal cholestasis: report of a new case and review of the literature." J. Pediatr. Gastroenterol. Nutr.. 2007;45(2):261-4.
"Finding disease variants in Mendelian disorders by using sequence data: methods and applications." Am. J. Hum. Genet.. 2011;89(6):701-12. Abstract
"Kabuki syndrome: description of a 2-year old Roumanian boy and review of the literature." Genet. Couns.. 2007;18(1):113-7. Abstract
"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
"Two patients with arthrogryposis-renal tubular dysfunction-cholestasis syndrome in a Japanese family." Pediatr Int. 2006;48(4):416-9.
"Recurrent dislocation of the patella in Kabuki make-up syndrome." J Pediatr Orthop. 1993;13(2):265-7. Abstract
"A case of Kabuki make-up syndrome with EBV+Burkitt's lymphoma." Acta Paediatr Jpn. 1996;38(1):66-8. Abstract
"Cleft palate in Kabuki syndrome: a report of six cases." Cleft Palate Craniofac. J.. 2006;43(6):756-61. Abstract
"Inner ear abnormalities in Kabuki make-up syndrome: report of three cases." Am. J. Med. Genet.. 2000;92(2):87-9. Abstract


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