Publications

Sort by: [ Author (Asc)] Title Type Year
Filters: First Letter Of Last Name is K  [Clear All Filters]
A B C D E F G H I J [K] L M N O P Q R S T U V W X Y Z   [Show ALL]
K
Kaiser-Kupfer MI, Mulvihill JJ, Klein KL, Parry DM, Schlesinger SL. "The Niikawa-Kuroki (Kabuki make-up) syndrome in an American black." Am. J. Ophthalmol.. 1986;102(5):667-8.
Kaneko H, Suma K, Takeuchi Y, et al. "[An operative case of Kabuki make-up syndrome with ASD and pulmonary hypertension]." Kyobu Geka. 1985;38(9):737-40.
Kapoor RR, James C, Hussain K. "Hyperinsulinism in developmental syndromes." Endocr Dev. 2009;14:95-113. Abstract
Kapoor S. "Emanuel syndrome: A rare disorder that is often confused with Kabuki syndrome." J Pediatr Neurosci. 2015;10(2):194-5.
Kara B, Kayserili H, Imer M, Calişkan M, Ozmen M. "Quadrigeminal cistern arachnoid cyst in a patient with Kabuki syndrome." Pediatr. Neurol.. 2006;34(6):478-80. Abstract
Karagianni P, Lambropoulos V, Stergidou D, Fryssira H, Chatziioannidis I, Spyridakis I. "Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited." Am. J. Med. Genet. A. 2016;170(5):1333-8. Abstract
Kasdon BD, Fox JE. "Kabuki syndrome: diagnostic and treatment considerations." Ment Health Fam Med. 2012;9(3):171-9. Abstract
Kashiwagi Y, Numabe H, Kawashima H, et al. "A case report of Kabuki make-up syndrome with cytomegalovirus infection." J. Infect.. 2004;48(3):278-82. Abstract
Kasuya H, Shimizu T, Nakamura S, Takakura K. "Kabuki make-up syndrome and report of a case with hydrocephalus." Childs Nerv Syst. 1998;14(6):230-5. Abstract
Kawame H, Hannibal MC, Hudgins L, Pagon RA. "Phenotypic spectrum and management issues in Kabuki syndrome." J. Pediatr.. 1999;134(4):480-5. Abstract
Keith BP, Robertson DL, Hentges KE. "Locus heterogeneity disease genes encode proteins with high interconnectivity in the human protein interaction network." Front Genet. 2014;5:434. Abstract
Kim NG, Kim HJ, Hwang J-M. "Strabismus and poor stereoacuity associated with Kabuki syndrome." Korean J Ophthalmol. 2011;25(2):136-8. Abstract
Kim SJ, Cho SY, Maeng SH, et al. "A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome." Korean J Pediatr. 2013;56(8):355-8. Abstract
Kimberley KW, Morris CA, Hobart HH. "BAC-FISH refutes report of an 8p22-8p23.1 inversion or duplication in 8 patients with Kabuki syndrome." BMC Med. Genet.. 2006;7:46. Abstract
Kittayalaksakun S, Suttipong W, Srivuthana S. "Children with clinical central diabetes insipidus at King Chulalongkorn Memorial Hospital." J Med Assoc Thai. 2005;88 Suppl 4:S17-22. Abstract
Kluijt I, van Dorp DB, Kwee ML, et al. "Kabuki syndrome - report of six cases and review of the literature with emphasis on ocular features." Ophthalmic Genet.. 2000;21(1):51-61. Abstract
Kobayashi O, Sakuragawa N. "Inheritance in Kabuki make-up (Niikawa-Kuroki) syndrome." Am. J. Med. Genet.. 1996;61(1):92-3.
Kobayashi ET, Maruyama Y, Kobayashi K. "A longitudinal evaluation of craniofacial growth in a patient with Kabuki make-up syndrome: a case report." Eur J Orthod. 2001;23(2):205-13. Abstract
Kokitsu-Nakata NM, Guion-Almeida ML. "Aural atresia and microtia in Kabuki syndrome." Am. J. Med. Genet. A. 2003;118A(4):391-3.
Kokitsu-Nakata NM, Vendramini S, Guion-Almeida ML. "Lower lip pits and anorectal anomalies in Kabuki syndrome." Am. J. Med. Genet.. 1999;86(3):282-4. Abstract
Kokitsu-Nakata NM, Petrin AL, Heard JP, et al. "Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome." Am. J. Med. Genet. A. 2012;158A(8):2003-8. Abstract
Koutras A, Fisher S. "Niikawa-Kuroki syndrome: a new malformation syndrome of postnatal dwarfism, mental retardation, unusual face, and protruding ears." J. Pediatr.. 1982;101(3):417-9.
Kramer S, Seitz B, Käsmann-Kellner B. "[Tapetoretinal dystrophy and unusual facial features in an 8-year-old boy]." Ophthalmologe. 2010;107(2):182-5. Abstract
Ku C-S, Naidoo N, Pawitan Y. "Revisiting Mendelian disorders through exome sequencing." Hum. Genet.. 2011;129(4):351-70. Abstract
Kuandykov EU, Il'ina EG. "[The Kabuki syndrome]." Pediatriia. 1990;(1):105-7.