Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

180 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations.
Yamada Y, Nomura N, Yamada K, Matsuo M, Suzuki Y, Sameshima K, Kimura R, Yamamoto Y, Fukushi D, Fukuhara Y, Ishihara N, Nishi E, Imataka G, Suzumura H, Hamano S, Shimizu K, Iwakoshi M, Ohama K, Ohta A, Wakamoto H, Kajita M, Miura K, Yokochi K, Kosaki K, Kuroda T, Kosaki R, Hiraki Y, Saito K, Mizuno S, Kurosawa K, Okamoto N, Wakamatsu N. Yamada Y, et al. Among authors: kosaki r, kosaki k. Am J Med Genet A. 2014 Aug;164A(8):1899-908. doi: 10.1002/ajmg.a.36551. Epub 2014 Apr 8. Am J Med Genet A. 2014. PMID: 24715670
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
Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome.
Watanabe S, Shimizu K, Ohashi H, Kosaki R, Okamoto N, Shimojima K, Yamamoto T, Chinen Y, Mizuno S, Dowa Y, Shiomi N, Toda Y, Tashiro K, Shichijo K, Minatozaki K, Aso S, Minagawa K, Hiraki Y, Shimokawa O, Matsumoto T, Fukuda M, Moriuchi H, Yoshiura K, Kondoh T. Watanabe S, et al. Among authors: kosaki r. Am J Med Genet A. 2016 Apr;170A(4):908-17. doi: 10.1002/ajmg.a.37496. Epub 2016 Jan 18. Am J Med Genet A. 2016. PMID: 26782913
Monozygotic twins of Smith-Magenis syndrome.
Kosaki R, Okuyama T, Tanaka T, Migita O, Kosaki K. Kosaki R, et al. Among authors: kosaki k. Am J Med Genet A. 2007 Apr 1;143A(7):768-9. doi: 10.1002/ajmg.a.31647. Am J Med Genet A. 2007. PMID: 17345621 No abstract available.
180 results