Publications
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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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Acquired myelinated nerve fibers in association with optic disk drusen." J AAPOS. 2010;14(6):544-7. 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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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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Anesthesia for a child with Kabuki Syndrome." Paediatr Anaesth. 2007;17(9):900-1.
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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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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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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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Autoimmune disorders in Kabuki syndrome." Am. J. Med. Genet. A. 2005;132A(3):260-2. 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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BAC-FISH refutes report of an 8p22-8p23.1 inversion or duplication in 8 patients with Kabuki syndrome." BMC Med. Genet.. 2006;7:46. Abstract
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Balloon angioplasty in a patient with Kabuki make-up syndrome." Pediatr Int. 2001;43(6):694-6.
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Biliary atresia and Kabuki syndrome: another case with long-term follow-up." Am. J. Med. Genet.. 2001;100(3):251.
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Biliary atresia in Kabuki syndrome." Am. J. Med. Genet.. 2000;91(2):157-8.
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Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene." BMC Med. Genet.. 2014;15:15. Abstract
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Bronchus Associated Lymphoid Tissue in Kabuki Syndrome with Associated Hyper-IgM Syndrome/Common Variable Immunodeficiency." Am. J. Respir. Crit. Care Med.. 2016.
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The C20orf133 gene is disrupted in a patient with Kabuki syndrome." J. Med. Genet.. 2007;44(9):562-9. Abstract
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Cardiac conduction abnormalities and congenital immunodeficiency in a child with Kabuki syndrome: case report." BMC Med. Genet.. 2005;6:28. Abstract
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A case of Kabuki make-up syndrome with central diabetes insipidus and growth hormone neurosecretory dysfunction." Acta Paediatr Jpn. 1994;36(4):412-5. Abstract
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A case of Kabuki make-up syndrome with EBV+Burkitt's lymphoma." Acta Paediatr Jpn. 1996;38(1):66-8. Abstract
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[A case of Kabuki syndrome admitted for acute diarrhea and growth retardation in a French hospital in tropical area]." Arch Pediatr. 2010;17(5):588-93. Abstract
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A case of Kabuki syndrome presenting West syndrome." Brain Dev.. 2007;29(6):380-2. Abstract
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