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

12,159 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings.
Imanaka Y, Taniguchi M, Doi T, Tsumura M, Nagaoka R, Shimomura M, Asano T, Kagawa R, Mizoguchi Y, Karakawa S, Arihiro K, Imai K, Morio T, Casanova JL, Puel A, Ohara O, Kamei K, Kobayashi M, Okada S. Imanaka Y, et al. Among authors: kobayashi m. J Clin Immunol. 2021 Jul;41(5):975-986. doi: 10.1007/s10875-021-00988-7. Epub 2021 Feb 8. J Clin Immunol. 2021. PMID: 33558980
The novel IFNGR1 mutation 774del4 produces a truncated form of interferon-gamma receptor 1 and has a dominant-negative effect on interferon-gamma signal transduction.
Okada S, Ishikawa N, Shirao K, Kawaguchi H, Tsumura M, Ohno Y, Yasunaga S, Ohtsubo M, Takihara Y, Kobayashi M. Okada S, et al. Among authors: kobayashi m. J Med Genet. 2007 Aug;44(8):485-91. doi: 10.1136/jmg.2007.049635. Epub 2007 May 18. J Med Genet. 2007. PMID: 17513528 Free PMC article.
Development of a new enzymatic diagnosis method for very-long-chain Acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in Japan.
Tajima G, Sakura N, Shirao K, Okada S, Tsumura M, Nishimura Y, Ono H, Hasegawa Y, Hata I, Naito E, Yamaguchi S, Shigematsu Y, Kobayashi M. Tajima G, et al. Among authors: kobayashi m. Pediatr Res. 2008 Dec;64(6):667-72. doi: 10.1203/PDR.0b013e318187cc44. Pediatr Res. 2008. PMID: 18670371
Deficiency of regulatory T cells in children with autoimmune neutropenia.
Nakamura K, Miki M, Mizoguchi Y, Karakawa S, Sato T, Kobayashi M. Nakamura K, et al. Among authors: kobayashi m. Br J Haematol. 2009 Jun;145(5):642-7. doi: 10.1111/j.1365-2141.2009.07662.x. Epub 2009 Mar 26. Br J Haematol. 2009. PMID: 19344427 Free article.
12,159 results
You have reached the last available page of results. Please see the User Guide for more information.