Publications
Filters: First Letter Of Title is N [Clear All Filters]
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Novel MLL2 Mutation in Kabuki Syndrome With Hypogammaglobulinemia and Severe Chronic Thrombopenia." J. Pediatr. Hematol. Oncol.. 2012. Abstract
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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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Novel loci for non-syndromic coarctation of the aorta in sporadic and familial cases." PLoS ONE. 2015;10(5):e0126873. Abstract
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A novel KMT2D mutation resulting in Kabuki syndrome: A case report." Molecular Medicine Reports. 2016.
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No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome." Am. J. Med. Genet. A. 2008;146A(14):1893-6.
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No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome." Am. J. Med. Genet. A. 2006;140(8):903-5.
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No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients." Am. J. Med. Genet. A. 2006;140(3):291-3.
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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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[Niikawa-Kuroki syndrome (the so-called Kabuki make up syndrome)]." Klin Padiatr. 1986;198(1):65-8. Abstract
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Niikawa-Kuroki syndrome: a new malformation syndrome of postnatal dwarfism, mental retardation, unusual face, and protruding ears." J. Pediatr.. 1982;101(3):417-9.
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Niikawa-Kuroki syndrome." Minerva Pediatr.. 1999;51(7-8):271-8. Abstract
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Niikawa-Kuroki (Kabuki) syndrome with congenital sensorineural deafness: evidence for a wide spectrum of inner ear abnormalities." Int. J. Pediatr. Otorhinolaryngol.. 2006;70(5):885-9. Abstract
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Niikawa-Kuroki (Kabuki) syndrome in two siblings." Minerva Pediatr.. 2001;53(1):43-8. Abstract
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[Niikawa-Kuroki (Kabuki) syndrome and hearing impairment]." HNO. 2004;52(5):451-4. Abstract
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The Niikawa-Kuroki (Kabuki make-up) syndrome in an American black." Am. J. Ophthalmol.. 1986;102(5):667-8.
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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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Niikawa-Kuroki (Kabuki make-up) syndrome." Am. J. Med. Genet.. 1989;33(3):425.
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New ocular findings in a case of Kabuki syndrome." Eye (Lond). 2004;18(3):322-4.
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New fundus findings in a case of Kabuki syndrome." Eye (Lond). 2009;23(6):1483-5.
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A new case of MOMO syndrome." Clin. Dysmorphol.. 2010;19(1):1-4. Abstract
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