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17,002 results

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Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome.
Kurosawa K, Kawame H, Okamoto N, Ochiai Y, Akatsuka A, Kobayashi M, Shimohira M, Mizuno S, Wada K, Fukushima Y, Kawawaki H, Yamamoto T, Masuno M, Imaizumi K, Kuroki Y. Kurosawa K, et al. Among authors: yamamoto t. Brain Dev. 2005 Aug;27(5):378-82. doi: 10.1016/j.braindev.2005.02.004. Epub 2005 Apr 13. Brain Dev. 2005. PMID: 16023556
GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome.
Sakazume S, Okamoto N, Yamamoto T, Kurosawa K, Numabe H, Ohashi Y, Kako Y, Nagai T, Ohashi H. Sakazume S, et al. Among authors: yamamoto t. Am J Med Genet A. 2007 Aug 1;143A(15):1703-7. doi: 10.1002/ajmg.a.31822. Am J Med Genet A. 2007. PMID: 17603795
Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome.
Kaname T, Yanagi K, Chinen Y, Makita Y, Okamoto N, Maehara H, Owan I, Kanaya F, Kubota Y, Oike Y, Yamamoto T, Kurosawa K, Fukushima Y, Bohring A, Opitz JM, Yoshiura K, Niikawa N, Naritomi K. Kaname T, et al. Among authors: yamamoto t. Am J Hum Genet. 2007 Oct;81(4):835-41. doi: 10.1086/522014. Epub 2007 Aug 27. Am J Hum Genet. 2007. PMID: 17847009 Free PMC article.
A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish.
Komoike Y, Shimojima K, Liang JS, Fujii H, Maegaki Y, Osawa M, Fujii S, Higashinakagawa T, Yamamoto T. Komoike Y, et al. Among authors: yamamoto t. J Hum Genet. 2010 Mar;55(3):155-62. doi: 10.1038/jhg.2010.1. Epub 2010 Jan 29. J Hum Genet. 2010. PMID: 20111057
Phenotypic overlapping of trisomy 12p and Pallister-Killian syndrome.
Inage E, Suzuki M, Minowa K, Akimoto N, Hisata K, Shoji H, Okumura A, Shimojima K, Shimizu T, Yamamoto T. Inage E, et al. Among authors: yamamoto t. Eur J Med Genet. 2010 May-Jun;53(3):159-61. doi: 10.1016/j.ejmg.2010.02.009. Epub 2010 Feb 26. Eur J Med Genet. 2010. PMID: 20219705
Co-occurrence of Prader-Willi and Sotos syndromes.
Okamoto N, Akimaru N, Matsuda K, Suzuki Y, Shimojima K, Yamamoto T. Okamoto N, et al. Among authors: yamamoto t. Am J Med Genet A. 2010 Aug;152A(8):2103-9. doi: 10.1002/ajmg.a.33544. Am J Med Genet A. 2010. PMID: 20635407
17,002 results
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