Publications

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Lynch SA, Ashcroft KA, Zwolinski S, Clarke C, Burn J. "Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13." J. Med. Genet.. 1995;32(3):227-30. Abstract
Lüerssen K, Ptok M. "[Niikawa-Kuroki (Kabuki) syndrome and hearing impairment]." HNO. 2004;52(5):451-4. Abstract
Lodi M, Chifari R, Parazzini C, et al. "Seizures and EEG pattern in Kabuki syndrome." Brain Dev.. 2010;32(10):829-34. Abstract
Lo IF, Cheung LY, Ng AY, Lam ST. "Interstitial Dup(1p) with findings of Kabuki make-up syndrome." Am. J. Med. Genet.. 1998;78(1):55-7. Abstract
Lindfield D, Griffiths MFP, Thompson DA, Moore AT. "Macular dystrophy in kabuki syndrome: a new clinical feature?" J Pediatr Ophthalmol Strabismus. 2011;48:e40-2. Abstract
Li Y, Bögershausen N, Alanay Y, et al. "A mutation screen in patients with Kabuki syndrome." Human genetics. 2011. Abstract
Li M, Zackai EH, Niikawa N, Kaplan PB, Driscoll DA. "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
Lerone M, Priolo M, Naselli A, Vignolo M, Romeo G, Silengo MC. "Ectodermal abnormalities in Kabuki syndrome." Am. J. Med. Genet.. 1997;73(3):263-6. Abstract
Lederer D, Grisart B, Digilio MC, et al. "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
Lan K, Michiwaki Y, Sunaga S, Michi K. "Congenital velopharyngeal incompetence in Kabuki make-up syndrome." Int J Oral Maxillofac Surg. 1995;24(4):298-300. Abstract
Ladha S. "Insight into the genetic cause underlying Kabuki syndrome." Clin. Genet.. 2010. Abstract