Publications
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Anesthesia for a child with Kabuki Syndrome." Paediatr Anaesth. 2007;17(9):900-1.
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Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome." J. Pediatr.. 2013. Abstract
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Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand." Clin. Dysmorphol.. 2001;10(4):257-62. Abstract
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Developmental outcome in Kabuki syndrome." Am. J. Med. Genet. A. 2005;132A(3):263-4. Abstract
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Finger creases lend a hand in Kabuki syndrome." Eur J Med Genet. 2013. Abstract
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Hardikar syndrome: a new syndrome with cleft lip/palate, pigmentary retinopathy and cholestasis." Am. J. Med. Genet.. 1997;71(4):472-4. Abstract
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Hardikar syndrome: long term outcome of a rare genetic disorder." Am. J. Med. Genet. A. 2008;146A(19):2468-72. Abstract
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Humoral deficiency in three paediatric patients with genetic diseases." Allergol Immunopathol (Madr). 2016;44(3):257-62. Abstract
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Hyperinsulinism in developmental syndromes." Endocr Dev. 2009;14:95-113. Abstract
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Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation." Mol Syndromol. 2012;3(4):180-4. Abstract
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Isochromosome X mosaicism in a child with Kabuki syndrome phenotype: A rare cytogenetic association." Indian J Hum Genet. 2011;17(3):241-3. Abstract
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Kabuki syndrome: a challenge for the primary care provider." J Am Assoc Nurse Pract. 2013;25(10):522-6. Abstract
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Kabuki syndrome and Crohn disease in a child with familial hypocalciuric hypercalcemia." J. Pediatr. Endocrinol. Metab.. 2010;23(9):975-9. Abstract
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Kabuki syndrome and neonatal cholestasis: report of a new case and review of the literature." J. Pediatr. Gastroenterol. Nutr.. 2007;45(2):261-4.
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Kabuki syndrome: underdiagnosed recognizable pattern in cleft palate patients." Cleft Palate Craniofac. J.. 1995;32(1):77-84. Abstract
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Neonatal phenotype in Kabuki syndrome." Am. J. Med. Genet. A. 2005;132A(3):244-7. Abstract
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[Niikawa-Kuroki syndrome. Which characteristics must the HNO doctor consider in its diagnosis]." HNO. 2005;53(3):253-6. Abstract
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A novel KMT2D mutation resulting in Kabuki syndrome: A case report." Molecular Medicine Reports. 2016.
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A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome." Korean J Pediatr. 2013;56(8):355-8. Abstract
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Partial 6q monosomy/partial 12q trisomy in a child with features of Kabuki make-up syndrome." Clin. Dysmorphol.. 1993;2(3):269-73. Abstract
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Ring chromosome X in a child with manifestations of Kabuki syndrome." Am. J. Med. Genet.. 1997;70(1):37-42. Abstract
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Three patients with ring (X) chromosomes and a severe phenotype." J. Med. Genet.. 1993;30(6):482-6. Abstract
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