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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

386 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.
Rael VE, Yano JA, Huizar JP, Slayden LC, Weiss MA, Turcotte EA, Terry JM, Zuo W, Thiffault I, Pastinen T, Farrow EG, Jenkins JL, Becker ML, Wong SC, Stevens AM, Otten C, Allenspach EJ, Bonner DE, Bernstein JA, Wheeler MT, Saxton RA; Undiagnosed Diseases Network; Liu B, Majer O, Barton GM. Rael VE, et al. J Exp Med. 2024 Aug 5;221(8):e20232005. doi: 10.1084/jem.20232005. Epub 2024 May 23. J Exp Med. 2024. PMID: 38780621 Free PMC article.
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Kohler JN, Legro NR, Baldridge D, Shin J, Bowman A, Ugur B, Jackstadt MM, Shriver LP, Patti GJ, Zhang B, Feng W, McAdow AR, Goddard P, Ungar RA, Jensen T, Smith KS, Fresard L, Alvarez R, Bonner D, Reuter CM, McCormack C, Kravets E, Marwaha S, Holt JM; Undiagnosed Diseases Network; Worthey E, Ashley EA, Montgomery SB, Fisher P, Postlethwait J, De Camilli P, Solnica-Krezel L, Bernstein JA, Wheeler MT. Kohler JN, et al. Genet Med. 2024 May 16:101166. doi: 10.1016/j.gim.2024.101166. Online ahead of print. Genet Med. 2024. PMID: 38767059
SARS-CoV-2 strains bearing Omicron BA.1 spike replicate in C57BL/6 mice.
Ogger PP, Martín MG, Jang S, Zhou J, Brown J, Sukhova K, Furnon W, Patel AH, Cowton V, Palmarini M, Barclay WS, Johansson C. Ogger PP, et al. Among authors: martin mg. Front Immunol. 2024 Apr 29;15:1383612. doi: 10.3389/fimmu.2024.1383612. eCollection 2024. Front Immunol. 2024. PMID: 38742107 Free PMC article.
Diet management in congenital diarrheas and enteropathies - general concepts and disease-specific approach, a narrative review.
Avitzur Y, Jimenez L, Martincevic I, Acra S, Courtney-Martin G, Gray M, Hope K, Muise A, Prieto Jimenez PM, Taylor N, Thiagarajah JR, Martín MG; PediCODE Consortium. Avitzur Y, et al. Among authors: martin mg. Am J Clin Nutr. 2024 May 9:S0002-9165(24)00466-0. doi: 10.1016/j.ajcnut.2024.05.004. Online ahead of print. Am J Clin Nutr. 2024. PMID: 38734141 Free article. Review.
De novo variants in DENND5B cause a neurodevelopmental disorder.
Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P; Undiagnosed Diseases Network; Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. Scala M, et al. Am J Hum Genet. 2024 Mar 7;111(3):529-543. doi: 10.1016/j.ajhg.2024.02.001. Epub 2024 Feb 21. Am J Hum Genet. 2024. PMID: 38387458 Free PMC article.
MEFV gene mutation (c.229G>T) as a cause of fever of unknown origin.
Miramontes-González JP, Cristea AC, Martín MG, González Fernández M, Pérez-Castrillón JL. Miramontes-González JP, et al. Among authors: martin mg. Eur J Intern Med. 2024 May;123:151-152. doi: 10.1016/j.ejim.2024.01.026. Epub 2024 Feb 5. Eur J Intern Med. 2024. PMID: 38320885 No abstract available.
386 results