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

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2007 1
2008 1
2009 2
2010 1
2011 1
2017 1
2018 1
2019 7
2020 2
2021 2
2022 1
2023 3
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

21 results

Results by year

Filters applied: . Clear all
Page 1
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification.
Chora JR, Iacocca MA, Tichý L, Wand H, Kurtz CL, Zimmermann H, Leon A, Williams M, Humphries SE, Hooper AJ, Trinder M, Brunham LR, Costa Pereira A, Jannes CE, Chen M, Chonis J, Wang J, Kim S, Johnston T, Soucek P, Kramarek M, Leigh SE, Carrié A, Sijbrands EJ, Hegele RA, Freiberger T, Knowles JW, Bourbon M; ClinGen Familial Hypercholesterolemia Expert Panel. Chora JR, et al. Among authors: soucek p. Genet Med. 2022 Feb;24(2):293-306. doi: 10.1016/j.gim.2021.09.012. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906454 Free article.
Bending of DNA duplexes with mutation motifs.
Růžička M, Souček P, Kulhánek P, Radová L, Fajkusová L, Réblová K. Růžička M, et al. Among authors: soucek p. DNA Res. 2019 Aug 1;26(4):341-352. doi: 10.1093/dnares/dsz013. DNA Res. 2019. PMID: 31230075 Free PMC article.
Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort.
Grombirikova H, Bily V, Soucek P, Kramarek M, Hakl R, Ballonova L, Ravcukova B, Ricna D, Kozena K, Kratochvilova L, Sobotkova M, Zachova R, Kuklinek P, Kralickova P, Krcmova I, Hanzlikova J, Vachova M, Krystufkova O, Dankova E, Jesenak M, Novackova M, Svoboda M, Litzman J, Freiberger T. Grombirikova H, et al. Among authors: soucek p. J Clin Immunol. 2023 Nov;43(8):1974-1991. doi: 10.1007/s10875-023-01565-w. Epub 2023 Aug 25. J Clin Immunol. 2023. PMID: 37620742 Free PMC article.
21 results