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

136,335 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease.
Keskitalo S, Haapaniemi EM, Glumoff V, Liu X, Lehtinen V, Fogarty C, Rajala H, Chiang SC, Mustjoki S, Kovanen P, Lohi J, Bryceson YT, Seppänen M, Kere J, Heiskanen K, Varjosalo M. Keskitalo S, et al. Among authors: liu x. NPJ Genom Med. 2019 Jun 27;4:14. doi: 10.1038/s41525-019-0088-5. eCollection 2019. NPJ Genom Med. 2019. PMID: 31263572 Free PMC article.
Somatic MED12 Nonsense Mutation Escapes mRNA Decay and Reveals a Motif Required for Nuclear Entry.
Heikkinen T, Kämpjärvi K, Keskitalo S, von Nandelstadh P, Liu X, Rantanen V, Pitkänen E, Kinnunen M, Kuusanmäki H, Kontro M, Turunen M, Mäkinen N, Taipale J, Heckman C, Lehti K, Mustjoki S, Varjosalo M, Vahteristo P. Heikkinen T, et al. Among authors: liu x. Hum Mutat. 2017 Mar;38(3):269-274. doi: 10.1002/humu.23157. Epub 2017 Jan 11. Hum Mutat. 2017. PMID: 28054750
Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy.
Göös H, Fogarty CL, Sahu B, Plagnol V, Rajamäki K, Nurmi K, Liu X, Einarsdottir E, Jouppila A, Pettersson T, Vihinen H, Krjutskov K, Saavalainen P, Järvinen A, Muurinen M, Greco D, Scala G, Curtis J, Nordström D, Flaumenhaft R, Vaarala O, Kovanen PE, Keskitalo S, Ranki A, Kere J, Lehto M, Notarangelo LD, Nejentsev S, Eklund KK, Varjosalo M, Taipale J, Seppänen MRJ. Göös H, et al. Among authors: liu x. J Allergy Clin Immunol. 2019 Nov;144(5):1364-1376. doi: 10.1016/j.jaci.2019.06.003. Epub 2019 Jun 13. J Allergy Clin Immunol. 2019. PMID: 31201888 Free PMC article.
136,335 results
You have reached the last available page of results. Please see the User Guide for more information.