Publications

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Atar M, Lee W, O'Donnell D. "Kabuki syndrome: oral and general features seen in a 2-year-old Chinese boy." Int J Paediatr Dent. 2006;16(3):222-6. Abstract
Atalay YO, Kaya C, Ustun YB, Sahinoglu AH. "Anesthesia management in a patient with kabuki syndrome." Med Arch. 2014;68(5):359-60. Abstract
Arnaud M, Barat-Houari M, Gatinois V, et al. "[Kabuki syndrome: Update and review]." Arch Pediatr. 2015. Abstract
Armstrong L, Abd El Moneim A, Aleck K, et al. "Further delineation of Kabuki syndrome in 48 well-defined new individuals." Am. J. Med. Genet. A. 2005;132A(3):265-72. Abstract
Aoyagi S, Kumade M, Tanaka K, Aso K, Kosuga K, Ohishi K. "[A case report of Kabuki make-up syndrome with partial anomalous pulmonary venous return and ASD]." Rinsho Kyobu Geka. 1988;8(4):415-7.
Ang S-Y, Uebersohn A, Spencer IC, et al. "KMT2D regulates specific programs in heart development via histone H3 lysine 4 di-methylation." Development. 2016;143(5):810-21. Abstract
Andersen MS, Menazzi S, Brun P, Cocah C, Merla G, Solari A. "[Clinical diagnosis of Kabuki syndrome: phenotype and associated abnormalities in two new cases]." Arch Argent Pediatr. 2014;112(1):26-32. Abstract
Anandan M, Porter NJ, Nemeth AH, Blair E, Downes SM. "Coats-type retinal telangiectasia in case of Kabuki make-up syndrome (Niikawa-Kuroki syndrome)." Ophthalmic Genet.. 2005;26(4):181-3. Abstract
Ali M, Hom RA, Blakeslee W, Ikenouye L, Kutateladze TG. "Diverse functions of PHD fingers of the MLL/KMT2 subfamily." Biochim. Biophys. Acta. 2014;1843(2):366-71. Abstract
Al Mosawi AJ, Fewin L. "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
Akin Sari B, Karaer K, Bodur S, Soysal SA. "Case report: autistic disorder in Kabuki syndrome." J Autism Dev Disord. 2008;38(1):198-201.
Aguilera Albesa S, Botella Astorqui MP, Ocio Ocio I. "[Kabuki syndrome in the differential diagnosis of neonatal hypotonia]." An Pediatr (Barc). 2009;70(1):91-3.
Adam MP, Hudgins L. "Kabuki syndrome: a review." Clin. Genet.. 2005;67(3):209-19. 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
Abdel-Salam GMH, Afifi HH, Eid MM, el-Badry TH, Kholoussi NM. "Anorectal anomalies, diaphragmatic defect, cleft palate, lower lip pits, hypopigmentation and hypogammaglobulinemia A in Kabuki syndrome: a rare combination." Genet. Couns.. 2008;19(3):309-17. Abstract
Abd SE, Wilson L, Howlin P, Patton MA, Wintgens AM, Wilson R. "Agenesis of the corpus callosum in Turner syndrome with ring X." Dev Med Child Neurol. 1997;39(2):119-24. Abstract