Publications
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Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13." J. Med. Genet.. 1995;32(3):227-30. Abstract
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[Niikawa-Kuroki (Kabuki) syndrome and hearing impairment]." HNO. 2004;52(5):451-4. Abstract
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A novel KMT2D mutation resulting in Kabuki syndrome: A case report." Molecular Medicine Reports. 2016.
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Kabuki syndrome as a cause of non-immune fetal hydrops/ascites." American Journal of Medical Genetics Part A. 2016;170(12):3333-3337.
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Seizures and EEG pattern in Kabuki syndrome." Brain Dev.. 2010;32(10):829-34. Abstract
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Interstitial Dup(1p) with findings of Kabuki make-up syndrome." Am. J. Med. Genet.. 1998;78(1):55-7. Abstract
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Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations." BMC Med. Genet.. 2015;16(1):26. Abstract
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Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome." J. Allergy Clin. Immunol.. 2016;137(1):179-87.e10. Abstract
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Macular dystrophy in kabuki syndrome: a new clinical feature?" J Pediatr Ophthalmol Strabismus. 2011;48:e40-2. Abstract
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Immunologic Assessment and KMT2D mutation detection in Kabuki Syndrome." Clin. Genet.. 2014. Abstract
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Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2." Am. J. Med. Genet.. 1996;65(2):101-3. Abstract
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A mutation screen in patients with Kabuki syndrome." Human genetics. 2011. Abstract
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Ectodermal abnormalities in Kabuki syndrome." Am. J. Med. Genet.. 1997;73(3):263-6. Abstract
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A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A." Am. J. Med. Genet. A. 2014. Abstract
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Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome." Am. J. Hum. Genet.. 2012;90(1):119-24. Abstract
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Congenital velopharyngeal incompetence in Kabuki make-up syndrome." Int J Oral Maxillofac Surg. 1995;24(4):298-300. Abstract
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Insight into the genetic cause underlying Kabuki syndrome." Clin. Genet.. 2010. Abstract
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