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538 results

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Page 1
Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidences.
Yamada M, Nitta Y, Uehara T, Suzuki H, Miya F, Takenouchi T, Tamura M, Ayabe S, Yoshiki A, Maeno A, Saga Y, Furuse T, Yamada I, Okamoto N, Kosaki K, Sugie A. Yamada M, et al. Among authors: kosaki k. Eur J Med Genet. 2023 Aug;66(8):104804. doi: 10.1016/j.ejmg.2023.104804. Epub 2023 Jun 25. Eur J Med Genet. 2023. PMID: 37369308
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
Reversible diffuse white matter lesion in Alagille syndrome.
Takenouchi T, Shimozato S, Kosaki K, Momoshima S, Takahashi T. Takenouchi T, et al. Among authors: kosaki k. Pediatr Neurol. 2011 Jul;45(1):54-6. doi: 10.1016/j.pediatrneurol.2011.02.009. Pediatr Neurol. 2011. PMID: 21723462
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
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
Congenital corneal staphyloma as a complication of Kabuki syndrome.
Tanaka R, Takenouchi T, Uchida K, Sato T, Fukushima H, Yoshihashi H, Takahashi T, Tsubota K, Kosaki K. Tanaka R, et al. Among authors: kosaki k. Am J Med Genet A. 2012 Aug;158A(8):2000-2. doi: 10.1002/ajmg.a.35453. Epub 2012 Jul 11. Am J Med Genet A. 2012. PMID: 22786791
Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome.
Takenouchi T, Yagihashi T, Tsuchiya H, Torii C, Hayashi K, Kosaki R, Saitoh S, Takahashi T, Kosaki K. Takenouchi T, et al. Among authors: kosaki r, kosaki k. Am J Med Genet A. 2012 Oct;158A(10):2621-3. doi: 10.1002/ajmg.a.35230. Epub 2012 Aug 10. Am J Med Genet A. 2012. PMID: 22887345 No abstract available.
538 results