Publications

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Sanlaville D, Geneviève D, Bernardin C, et al. "Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome." Eur. J. Hum. Genet.. 2005;13(5):690-3. Abstract
Belengeanu V, Rozsnyai K, Farcaş S, Velea I, Fryns J-P. "Familial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome?" Genet. Couns.. 2005;16(2):167-71. Abstract
Ogawa A, Yasumoto S, Tomoda Y, Ohfu M, Mitsudome A, Kuroki Y. "Favorable seizure outcome in Kabuki make-up syndrome associated with epilepsy." J. Child Neurol.. 2003;18(8):549-51. Abstract
Ionita-Laza I, Makarov V, Yoon S, et al. "Finding disease variants in Mendelian disorders by using sequence data: methods and applications." Am. J. Hum. Genet.. 2011;89(6):701-12. Abstract
Al Mosawi AJ, Fewin L. "The first case of Niikawa-Kuroki syndrome in Kazakhstan associated with café au lait spots." G Ital Dermatol Venereol. 2009;144(5):613-5. Abstract
Armstrong L, Abd El Moneim A, Aleck K, et al. "Further delineation of Kabuki syndrome in 48 well-defined new individuals." Am. J. Med. Genet. A. 2005;132A(3):265-72. Abstract
Courtens W, Rassart A, Stene JJ, Vamos E. "Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome." Am. J. Med. Genet.. 2000;93(3):244-9. Abstract
Pottinger CC, Stiff RE, Holroyd JM, Davies SJ. "Further evidence of dominant inheritance of Kabuki syndrome." Clin. Dysmorphol.. 2009;18(4):215-7.