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

35 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia.
Pogoda M, Hilke FJ, Lohmann E, Sturm M, Lenz F, Matthes J, Muyas F, Ossowski S, Hoischen A, Faust U, Sepahi I, Casadei N, Poths S, Riess O, Schroeder C, Grundmann K. Pogoda M, et al. Among authors: grundmann k. Front Neurol. 2019 Dec 18;10:1332. doi: 10.3389/fneur.2019.01332. eCollection 2019. Front Neurol. 2019. PMID: 31920950 Free PMC article.
HBOC multi-gene panel testing: comparison of two sequencing centers.
Schroeder C, Faust U, Sturm M, Hackmann K, Grundmann K, Harmuth F, Bosse K, Kehrer M, Benkert T, Klink B, Mackenroth L, Betcheva-Krajcir E, Wimberger P, Kast K, Heilig M, Nguyen HP, Riess O, Schröck E, Bauer P, Rump A. Schroeder C, et al. Among authors: grundmann k. Breast Cancer Res Treat. 2015 Jul;152(1):129-136. doi: 10.1007/s10549-015-3429-9. Epub 2015 May 29. Breast Cancer Res Treat. 2015. PMID: 26022348
Mutations in CIZ1 are not a major cause for dystonia in Germany.
Dufke C, Hauser AK, Sturm M, Fluhr S, Wächter T, Leube B, Auburger G, Ott T, Bauer P, Gasser T, Grundmann K. Dufke C, et al. Among authors: grundmann k. Mov Disord. 2015 Apr 15;30(5):740-3. doi: 10.1002/mds.26198. Epub 2015 Mar 17. Mov Disord. 2015. PMID: 25778706 No abstract available.
Screening of mutations in GNAL in sporadic dystonia patients.
Dufke C, Sturm M, Schroeder C, Moll S, Ott T, Riess O, Bauer P, Grundmann K. Dufke C, et al. Among authors: grundmann k. Mov Disord. 2014 Aug;29(9):1193-6. doi: 10.1002/mds.25794. Epub 2014 Jan 9. Mov Disord. 2014. PMID: 24408567
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group; Johnson C, Attié-Bitach T, Gleeson JG, Valente EM. Travaglini L, et al. Eur J Hum Genet. 2013 Oct;21(10):1074-8. doi: 10.1038/ejhg.2012.305. Epub 2013 Feb 6. Eur J Hum Genet. 2013. PMID: 23386033 Free PMC article.
35 results