Publications

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Journal Article
Jardine PE, Burvill-Holmes LC, Schutt WH, Lunt PW. "Partial 6q monosomy/partial 12q trisomy in a child with features of Kabuki make-up syndrome." Clin. Dysmorphol.. 1993;2(3):269-73. Abstract
Bhat AH, Davenport J, Cocalis M. "Partial Anomalous Left Pulmonary Artery along with Aortic Coarctation in an Infant with Kabuki Syndrome." Echocardiography. 2012. Abstract
Kurosawa K, Kawame H, Ochiai Y, Nakashima M, Tohma T, Ohashi H. "Patellar dislocation in Kabuki syndrome." Am. J. Med. Genet.. 2002;108(2):160-3. Abstract
Dyamenahalli U, Abraham B, Fontenot E, Prasad V, Imamura M. "Pathologic aneurysmal dilation of the ascending aorta and dilation of the main pulmonary artery in patients with Kabuki syndrome: valve-sparing aortic root replacement." Congenital heart disease. 2007;2(6):424-8. Abstract
Scherer S, Theile U, Beyer V, Ferrari R, Kreck C, Rister M. "Patient with Kabuki syndrome and acute leukemia." Am. J. Med. Genet. A. 2003;122A(1):76-9. Abstract
Sakurai H, Nozaki M, Takeuchi M, Soejima K, Kajimoto M, Hori S. "Periorbital correction in Kabuki syndrome." Plast. Reconstr. Surg.. 2003;111(4):1461-4.
Gole H, Chuk R, Coman D. "Persistent hyperinsulinism in Kabuki syndrome 2: case report and literature review." Clinics and Practice. 2016;6(3).
Camera G, Pozzolo S, Carta M, Righi E. "Peters'-Plus syndrome: report on an unusual case." Pathologica. 1994;86(6):673-5. Abstract
Kawame H, Hannibal MC, Hudgins L, Pagon RA. "Phenotypic spectrum and management issues in Kabuki syndrome." J. Pediatr.. 1999;134(4):480-5. Abstract
Bernier F-E, Schreiber A, Coulombe J, Hatami A, Marcoux D. "Pilomatricoma Associated with Kabuki Syndrome." Pediatric Dermatology. 2016.
Teissier N, Kaguelidou F, Couloigner V, François M, Van Den Abbeele T. "Predictive factors for success after transnasal endoscopic treatment of choanal atresia." Arch. Otolaryngol. Head Neck Surg.. 2008;134(1):57-61. Abstract
Tutar HE, Ocal G, Ince E, Cin S. "Premature thelarche in Kabuki make-up syndrome." Acta Paediatr Jpn. 1994;36(1):104-6. Abstract