Publications
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Long-term hormone replacement therapy in two patients with Kabuki syndrome and growth hormone deficiency." Minerva Pediatr.. 2000;52(1-2):47-53. Abstract
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Kabuki syndrome and growth hormone deficiency: description of a case treated by long-term hormone replacement." Clin. Dysmorphol.. 2002;11(1):71-2.
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Long-term hormone replacement therapy in two patients with Kabuki syndrome and growth hormone deficiency." Minerva Pediatr.. 2000;52(1-2):47-53. Abstract
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A diagnostic conundrum: two siblings with features overlapping the Kabuki and Malpuech syndromes. A new MCA syndrome?" Am. J. Med. Genet. A. 2004;125A(3):306-9. Abstract
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Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children." Am. J. Med. Genet.. 1995;59(3):276-82. 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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Chorea associated with antiphospholipid antibodies in a patient with Kabuki syndrome." Am. J. Med. Genet. A. 2007;143A(12):1338-41. Abstract
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The Niikawa-Kuroki (Kabuki make-up) syndrome in a Moslem Arab child." Clin. Genet.. 1990;38(5):378-81. 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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Persistent hyperinsulinism in Kabuki syndrome 2: case report and literature review." Clinics and Practice. 2016;6(3).
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[Kabuki's syndrome. A recognizable picture from early infancy]." An. Esp. Pediatr.. 1997;47(4):429-31.
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Tremor and deep brain nuclei hyperintensities in Kabuki syndrome." Pediatr. Neurol.. 2010;43(2):148-50. Abstract
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KMT2D maintains neoplastic cell proliferation and global histone H3 lysine 4 monomethylation." Oncotarget. 2013;4(11):2144-53. Abstract
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Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis." J Clin Res Pediatr Endocrinol. 2016;8(1):105-6.
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