Publications

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Lerone M, Priolo M, Naselli A, Vignolo M, Romeo G, Silengo MC. "Ectodermal abnormalities in Kabuki syndrome." Am. J. Med. Genet.. 1997;73(3):263-6. Abstract
Abdel-Salam GMH, Afifi HH, Eid MM, El-Badry TH, Kholoussi N. "Ectodermal abnormalities in patients with kabuki syndrome." Pediatr Dermatol. 2011;28(5):507-11. Abstract
Powell HWR, Hart PE, Sisodiya SM. "Epilepsy and perisylvian polymicrogyria in a patient with Kabuki syndrome." Dev Med Child Neurol. 2003;45(12):841-3. Abstract
Di Gennaro G, Condoluci C, Casali C, Ciccarelli O, Albertini G. "Epilepsy and polymicrogyria in Kabuki make-up (Niikawa-Kuroki) syndrome." Pediatr. Neurol.. 1999;21(2):566-8. Abstract
Sharma P, Dave V. "Esotropia in kabuki syndrome." J Pediatr Ophthalmol Strabismus. 2010;47:e1-3. Abstract
Sharma P, Dave V. "Esotropia in Kabuki Syndrome." J Pediatr Ophthalmol Strabismus. 2009:1-3. Abstract
Bayar Muluk N, Yalçinkaya F, Budak B, Gündüz S, Ayas K. "Evaluation for language and speech development in Kabuki make-up syndrome: a case report." Int. J. Pediatr. Otorhinolaryngol.. 2009;73(12):1837-40. Abstract
Ng SB, Bigham AW, Buckingham KJ, et al. "Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome." Nat. Genet.. 2010;42(9):790-3. Abstract
Defloor T, van Borsel J, Schrander-Stumpel CTRM, Curfs LMG. "Expressive language in children with Kabuki syndrome." Am. J. Med. Genet. A. 2005;132A(3):256-9. Abstract