Publications
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Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome." Am. J. Med. Genet.. 1989;33(3):376-81. Abstract
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Autoimmune haematological disorders in two Italian children with Kabuki syndrome." Ital J Pediatr. 2014;40:10. Abstract
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Autoimmune disorders in Kabuki syndrome." Am. J. Med. Genet. A. 2005;132A(3):260-2. Abstract
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Autism spectrum disorder in Kabuki syndrome: clinical, diagnostic and rehabilitative aspects assessed through the presentation of three cases." Minerva Pediatr.. 2015;67(4):369-75. Abstract
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Aural atresia and microtia in Kabuki syndrome." Am. J. Med. Genet. A. 2003;118A(4):391-3.
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Audiological and vestibular findings in the Kabuki syndrome." Am. J. Med. Genet. A. 2009;149A(2):171-6. Abstract
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Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature." Am. J. Med. Genet. A. 2004;129A(1):64-8. Abstract
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Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome." J. Med. Genet.. 2005;42(1):49-53. Abstract
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Anorectal anomalies associated with Kabuki make-up syndrome." J. Pediatr. Surg.. 1992;27(12):1600-2. Abstract
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Anesthesia management in Kabuki make-up syndrome." Saudi Med J. 2005;26(12):1980-2. Abstract
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Anesthesia management in a patient with kabuki syndrome." Med Arch. 2014;68(5):359-60. Abstract
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Anesthesia for a child with Kabuki Syndrome." Paediatr Anaesth. 2007;17(9):900-1.
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Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome." Am. J. Med. Genet. A. 2012;158A(8):2003-8. Abstract
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Anaesthetic management in a case of Kabuki syndrome." Eur J Anaesthesiol. 2004;21(2):162-3.
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Agenesis of the corpus callosum in Turner syndrome with ring X." Dev Med Child Neurol. 1997;39(2):119-24. Abstract
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Additional post-natal diagnoses following antenatal diagnosis of isolated cleft lip +/- palate." Arch. Dis. Child. Fetal Neonatal Ed.. 2014. Abstract
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Acute myocardial infarction in Kabuki syndrome: chance occurrence or a novel risk factor for premature atherosclerosis?" Int. J. Cardiol.. 2014;176(1):e26-8.
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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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Acanthosis nigricans in Kabuki syndrome." J Cutan Med Surg. 2004;8(3):157-61. Abstract
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Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome." Mol. Genet. Metab.. 2012;107(3):627-9. Abstract
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