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Prevalence of Immunological Defects in a Cohort of 97 Rubinstein-Taybi Syndrome Patients.
Saettini F, Herriot R, Prada E, Nizon M, Zama D, Marzollo A, Romaniouk I, Lougaris V, Cortesi M, Morreale A, Kosaki R, Cardinale F, Ricci S, Domínguez-Garrido E, Montin D, Vincent M, Milani D, Biondi A, Gervasini C, Badolato R. Saettini F, et al. Among authors: kosaki r. J Clin Immunol. 2020 Aug;40(6):851-860. doi: 10.1007/s10875-020-00808-4. Epub 2020 Jun 27. J Clin Immunol. 2020. PMID: 32594341
Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography.
Udaka T, Samejima H, Kosaki R, Kurosawa K, Okamoto N, Mizuno S, Makita Y, Numabe H, Toral JF, Takahashi T, Kosaki K. Udaka T, et al. Among authors: kosaki r, kosaki k. Congenit Anom (Kyoto). 2005 Dec;45(4):125-31. doi: 10.1111/j.1741-4520.2005.00081.x. Congenit Anom (Kyoto). 2005. PMID: 16359492
Age-dependent change in behavioral feature in Rubinstein-Taybi syndrome.
Yagihashi T, Kosaki K, Okamoto N, Mizuno S, Kurosawa K, Takahashi T, Sato Y, Kosaki R. Yagihashi T, et al. Among authors: kosaki r, kosaki k. Congenit Anom (Kyoto). 2012 Jun;52(2):82-6. doi: 10.1111/j.1741-4520.2012.00356.x. Congenit Anom (Kyoto). 2012. PMID: 22639993
Rubinstein-Taybi syndrome.
Kosaki R. Kosaki R. Nihon Rinsho. 2017 Mar;75(3):498-503. Nihon Rinsho. 2017. PMID: 30566799 English, Japanese.
Monozygotic twins of Rubinstein-Taybi syndrome discordant for glaucoma.
Kosaki R, Fujita H, Takada H, Okada M, Torii C, Kosaki K. Kosaki R, et al. Among authors: kosaki k. Am J Med Genet A. 2011 May;155A(5):1189-91. doi: 10.1002/ajmg.a.33967. Epub 2011 Apr 7. Am J Med Genet A. 2011. PMID: 21480480 No abstract available.
Ophthalmic features of CHARGE syndrome with CHD7 mutations.
Nishina S, Kosaki R, Yagihashi T, Azuma N, Okamoto N, Hatsukawa Y, Kurosawa K, Yamane T, Mizuno S, Tsuzuki K, Kosaki K. Nishina S, et al. Among authors: kosaki r, kosaki k. Am J Med Genet A. 2012 Mar;158A(3):514-8. doi: 10.1002/ajmg.a.34400. Epub 2012 Feb 2. Am J Med Genet A. 2012. PMID: 22302456
177 results