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

264 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles.
Hedberg-Oldfors C, Meyer R, Nolte K, Abdul Rahim Y, Lindberg C, Karason K, Thuestad IJ, Visuttijai K, Geijer M, Begemann M, Kraft F, Lausberg E, Hitpass L, Götzl R, Luna EJ, Lochmüller H, Koschmieder S, Gramlich M, Gess B, Elbracht M, Weis J, Kurth I, Oldfors A, Knopp C. Hedberg-Oldfors C, et al. Among authors: begemann m. Brain. 2020 Aug 1;143(8):2406-2420. doi: 10.1093/brain/awaa206. Brain. 2020. PMID: 32779703 Free PMC article.
Epigenetic and genetic diagnosis of Silver-Russell syndrome.
Eggermann T, Spengler S, Gogiel M, Begemann M, Elbracht M. Eggermann T, et al. Among authors: begemann m. Expert Rev Mol Diagn. 2012 Jun;12(5):459-71. doi: 10.1586/erm.12.43. Expert Rev Mol Diagn. 2012. PMID: 22702363 Review.
Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management.
Meyer R, Soellner L, Begemann M, Dicks S, Fekete G, Rahner N, Zerres K, Elbracht M, Eggermann T. Meyer R, et al. Among authors: begemann m. J Pediatr. 2017 Aug;187:206-212.e1. doi: 10.1016/j.jpeds.2017.04.018. Epub 2017 May 19. J Pediatr. 2017. PMID: 28529015
Recurrent somatic mutations are rare in patients with cryptic dyskeratosis congenita.
Kirschner M, Maurer A, Wlodarski MW, Ventura Ferreira MS, Bouillon AS, Halfmeyer I, Blau W, Kreuter M, Rosewich M, Corbacioglu S, Beck J, Schwarz M, Bittenbring J, Radsak MP, Wilk CM, Koschmieder S, Begemann M, Kurth I, Schemionek M, Brümmendorf TH, Beier F. Kirschner M, et al. Among authors: begemann m. Leukemia. 2018 Aug;32(8):1762-1767. doi: 10.1038/s41375-018-0125-x. Epub 2018 Apr 2. Leukemia. 2018. PMID: 29749397 Free article.
264 results