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

710 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
Sleyp Y, Valenzuela I, Accogli A, Ballon K, Ben-Zeev B, Berkovic SF, Broly M, Callaerts P, Caylor RC, Charles P, Chatron N, Cohen L, Coppola A, Cordeiro D, Cuccurullo C, Cuscó I, Janette diMonda, Duran-Romaña R, Ekhilevitch N, Fernández-Alvarez P, Gordon CT, Isidor B, Keren B, Lesca G, Maljaars J, Mercimek-Andrews S, Morrow MM, Muir AM; University of Washington Center for Mendelian Genomics; Rousseau F, Salpietro V, Scheffer IE, Schnur RE, Schymkowitz J, Souche E, Steyaert J, Stolerman ES, Vengoechea J, Ville D, Washington C, Weiss K, Zaid R, Sadleir LG, Mefford HC, Peeters H. Sleyp Y, et al. Among authors: rousseau f. Genet Med. 2022 Dec;24(12):2464-2474. doi: 10.1016/j.gim.2022.08.020. Epub 2022 Oct 11. Genet Med. 2022. PMID: 36214804 Free article.
Surfing on protein folding energy landscapes.
Schymkowitz JW, Rousseau F, Serrano L. Schymkowitz JW, et al. Among authors: rousseau f. Proc Natl Acad Sci U S A. 2002 Dec 10;99(25):15846-8. doi: 10.1073/pnas.012686599. Epub 2002 Dec 2. Proc Natl Acad Sci U S A. 2002. PMID: 12461186 Free PMC article. No abstract available.
ALS precursor finally shaken into fibrils.
Rousseau F, Schymkowitz J, Oliveberg M. Rousseau F, et al. Proc Natl Acad Sci U S A. 2008 Dec 2;105(48):18649-50. doi: 10.1073/pnas.0810568106. Epub 2008 Nov 24. Proc Natl Acad Sci U S A. 2008. PMID: 19033195 Free PMC article. No abstract available.
710 results