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

60 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.
Lessel D, Gehbauer C, Bramswig NC, Schluth-Bolard C, Venkataramanappa S, van Gassen KLI, Hempel M, Haack TB, Baresic A, Genetti CA, Funari MFA, Lessel I, Kuhlmann L, Simon R, Liu P, Denecke J, Kuechler A, de Kruijff I, Shoukier M, Lek M, Mullen T, Lüdecke HJ, Lerario AM, Kobbe R, Krieger T, Demeer B, Lebrun M, Keren B, Nava C, Buratti J, Afenjar A, Shinawi M, Guillen Sacoto MJ, Gauthier J, Hamdan FF, Laberge AM, Campeau PM, Louie RJ, Cathey SS, Prinz I, Jorge AAL, Terhal PA, Lenhard B, Wieczorek D, Strom TM, Agrawal PB, Britsch S, Tolosa E, Kubisch C. Lessel D, et al. Among authors: shoukier m. Brain. 2018 Aug 1;141(8):2299-2311. doi: 10.1093/brain/awy173. Brain. 2018. PMID: 29985992 Free PMC article.
The transcription factor Bcl11b promotes both canonical and adaptive NK cell differentiation.
Holmes TD, Pandey RV, Helm EY, Schlums H, Han H, Campbell TM, Drashansky TT, Chiang S, Wu CY, Tao C, Shoukier M, Tolosa E, Von Hardenberg S, Sun M, Klemann C, Marsh RA, Lau CM, Lin Y, Sun JC, Månsson R, Cichocki F, Avram D, Bryceson YT. Holmes TD, et al. Among authors: shoukier m. Sci Immunol. 2021 Mar 12;6(57):eabc9801. doi: 10.1126/sciimmunol.abc9801. Sci Immunol. 2021. PMID: 33712472 Free PMC article.
LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death.
Keil L, Berisha F, Knappe D, Kubisch C, Shoukier M, Kirchhof P, Fabritz L, Hellenbroich Y, Woitschach R, Magnussen C. Keil L, et al. Among authors: shoukier m. Genes (Basel). 2022 Jan 19;13(2):169. doi: 10.3390/genes13020169. Genes (Basel). 2022. PMID: 35205214 Free PMC article.
Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerization.
Pan YE, Tibbe D, Harms FL, Reißner C, Becker K, Dingmann B, Mirzaa G, Kattentidt-Mouravieva AA, Shoukier M, Aggarwal S, Missler M, Kutsche K, Kreienkamp HJ. Pan YE, et al. Among authors: shoukier m. J Neurochem. 2021 May;157(4):1331-1350. doi: 10.1111/jnc.15215. Epub 2020 Nov 4. J Neurochem. 2021. PMID: 33090494 Free article.
60 results