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

392 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Rare coding variants in NOX4 link high ROS levels to psoriatic arthritis mutilans.
Wang S, Nikamo P, Laasonen L, Gudbjornsson B, Ejstrup L, Iversen L, Lindqvist U, Alm JJ, Eisfeldt J, Zheng X, Catrina SB, Taylan F, Vaz R, Ståhle M, Tapia-Paez I. Wang S, et al. Among authors: vaz r. EMBO Mol Med. 2024 Mar;16(3):596-615. doi: 10.1038/s44321-024-00035-z. Epub 2024 Feb 20. EMBO Mol Med. 2024. PMID: 38379095 Free PMC article.
A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities.
Eisfeldt J, Ameur A, Lenner F, Ten Berk de Boer E, Ek M, Wincent J, Vaz R, Ottosson J, Jonson T, Ivarsson S, Thunström S, Topa A, Stenberg S, Rohlin A, Sandestig A, Nordling M, Palmebäck P, Burstedt M, Nordin F, Stattin EL, Sobol M, Baliakas P, Bondeson ML, Höijer I, Saether KB, Lovmar L, Ehrencrona H, Melin M, Feuk L, Lindstrand A. Eisfeldt J, et al. Among authors: vaz r. Genome Res. 2024 Nov 20;34(11):1774-1784. doi: 10.1101/gr.279510.124. Genome Res. 2024. PMID: 39472022 Free PMC article.
Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.
Hammarsjö A, Wang Z, Vaz R, Taylan F, Sedghi M, Girisha KM, Chitayat D, Neethukrishna K, Shannon P, Godoy R, Gowrishankar K, Lindstrand A, Nasiri J, Baktashian M, Newton PT, Guo L, Hofmeister W, Pettersson M, Chagin AS, Nishimura G, Yan L, Matsumoto N, Nordgren A, Miyake N, Grigelioniene G, Ikegawa S. Hammarsjö A, et al. Among authors: vaz r. Sci Rep. 2017 Nov 14;7(1):15585. doi: 10.1038/s41598-017-15442-1. Sci Rep. 2017. PMID: 29138412 Free PMC article.
Truncating Variant in Myof Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and Cardiomyopathy.
Kiselev A, Vaz R, Knyazeva A, Sergushichev A, Dmitrieva R, Khudiakov A, Jorholt J, Smolina N, Sukhareva K, Fomicheva Y, Mikhaylov E, Mitrofanova L, Predeus A, Sjoberg G, Rudenko D, Sejersen T, Lindstrand A, Kostareva A. Kiselev A, et al. Among authors: vaz r. Front Genet. 2019 Jun 26;10:608. doi: 10.3389/fgene.2019.00608. eCollection 2019. Front Genet. 2019. PMID: 31297131 Free PMC article.
392 results