Publications

Sort by: [ Author (Asc)] Title Type Year
Filters: First Letter Of Title is T  [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]
B
Bereket A, Turan S, Alper G, Comu S, Alpay H, Akalin F. "Two patients with Kabuki syndrome presenting with endocrine problems." J. Pediatr. Endocrinol. Metab.. 2001;14(2):215-20. Abstract
D
Dennis NR, Collins AL, Crolla JA, Cockwell AE, Fisher AM, Jacobs PA. "Three patients with ring (X) chromosomes and a severe phenotype." J. Med. Genet.. 1993;30(6):482-6. Abstract
Dhar SS, Lee S-H, Kan P-Y, et al. "Trans-tail regulation of MLL4-catalyzed H3K4 methylation by H4R3 symmetric dimethylation is mediated by a tandem PHD of MLL4." Genes Dev.. 2012;26(24):2749-62. Abstract
Di Gennaro G, Sebastiano F, Quarato PP, Albertini G, Majolini L, Onorati P. "Temporo-occipital spikes: are they so typical for Kabuki syndrome?" Pediatr. Neurol.. 2004;31(5):379; author reply 379-80.
G
Grunseich C, Fishbein TM, Berkowitz F, Shamim EA. "Tremor and deep brain nuclei hyperintensities in Kabuki syndrome." Pediatr. Neurol.. 2010;43(2):148-50. Abstract
I
Ikezumi Y, Kabuki N, Hayakawa H, Matsui T, Gunji T, Uchiyama M. "Two patients with arthrogryposis-renal tubular dysfunction-cholestasis syndrome in a Japanese family." Pediatr Int. 2006;48(4):416-9.
K
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
L
Lederer D, Shears D, Benoit V, Verellen-Dumoulin C, Maystadt I. "A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A." Am. J. Med. Genet. A. 2014. Abstract
M
Margot H, Geneviève D, Gatinois V, et al. "Typical facial gestalt in X-linked Kabuki syndrome." American Journal of Medical Genetics Part A. 2016;170(12):3363-3364.
O
Oksanen VE, Arvio MA, Peippo MM, Valanne LK, Sainio KO. "Temporo-occipital spikes: a typical EEG finding in Kabuki syndrome." Pediatr. Neurol.. 2004;30(1):67-70. Abstract
R
Ramachandran M, Kay RM, Skaggs DL. "Treatment of hip dislocation in Kabuki syndrome: a report of three hips in two patients." J Pediatr Orthop. 2007;27(1):37-40. Abstract
S
Shieh JTC, Hudgins L, Cherry AM, Shen Z, Hoyme EH. "Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome." Am. J. Med. Genet. A. 2006;140(2):170-3. Abstract
W
Wilson GN. "Thirteen cases of Niikawa-Kuroki syndrome: report and review with emphasis on medical complications and preventive management." Am. J. Med. Genet.. 1998;79(2):112-20. Abstract