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Germline gain-of-function mutations in RAF1 cause Noonan syndrome.
Razzaque MA, Nishizawa T, Komoike Y, Yagi H, Furutani M, Amo R, Kamisago M, Momma K, Katayama H, Nakagawa M, Fujiwara Y, Matsushima M, Mizuno K, Tokuyama M, Hirota H, Muneuchi J, Higashinakagawa T, Matsuoka R. Razzaque MA, et al. Among authors: hirota h. Nat Genet. 2007 Aug;39(8):1013-7. doi: 10.1038/ng2078. Epub 2007 Jul 1. Nat Genet. 2007. PMID: 17603482
Molecular cytogenetic diagnosis of Williams syndrome.
Hirota H, Matsuoka R, Kimura M, Imamura S, Joh-o K, Ando M, Takao A, Momma K. Hirota H, et al. Am J Med Genet. 1996 Aug 23;64(3):473-7. doi: 10.1002/(SICI)1096-8628(19960823)64:3<473::AID-AJMG5>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8862624
VI. Genome structure and cognitive map of Williams syndrome.
Korenberg JR, Chen XN, Hirota H, Lai Z, Bellugi U, Burian D, Roe B, Matsuoka R. Korenberg JR, et al. Among authors: hirota h. J Cogn Neurosci. 2000;12 Suppl 1:89-107. doi: 10.1162/089892900562002. J Cogn Neurosci. 2000. PMID: 10953236 Clinical Trial.
209 results