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
2004 2
2005 2
2006 3
2008 1
2009 1
2010 2
2011 3
2012 3
2013 1
2014 1
2015 2
2016 3
2017 2
2018 1
2019 1
2020 5
2021 4
2022 3
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

41 results

Results by year

Filters applied: . Clear all
Page 1
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.
Bhat S, Rousseau J, Michaud C, Lourenço CM, Stoler JM, Louie RJ, Clarkson LK, Lichty A, Koboldt DC, Reshmi SC, Sisodiya SM, Hoytema van Konijnenburg EMM, Koop K, van Hasselt PM, Démurger F, Dubourg C, Sullivan BR, Hughes SS, Thiffault I, Tremblay ES, Accogli A, Srour M, Blunck R, Campeau PM. Bhat S, et al. Among authors: blunck r. Am J Hum Genet. 2024 Apr 4;111(4):761-777. doi: 10.1016/j.ajhg.2024.02.014. Epub 2024 Mar 18. Am J Hum Genet. 2024. PMID: 38503299
Functional Characterization of Two Novel Mutations in SCN5A Associated with Brugada Syndrome Identified in Italian Patients.
Balla C, Conte E, Selvatici R, Marsano RM, Gerbino A, Farnè M, Blunck R, Vitali F, Armaroli A, Brieda A, Liantonio A, De Luca A, Ferlini A, Rapezzi C, Bertini M, Gualandi F, Imbrici P. Balla C, et al. Among authors: blunck r. Int J Mol Sci. 2021 Jun 17;22(12):6513. doi: 10.3390/ijms22126513. Int J Mol Sci. 2021. PMID: 34204499 Free PMC article.
Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel.
Imbrici P, Accogli A, Blunck R, Altamura C, Iacomino M, D'adamo MC, Allegri A, Pedemonte M, Brolatti N, Vari S, Cataldi M, Capra V, Gustincich S, Zara F, Desaphy JF, Fiorillo C. Imbrici P, et al. Among authors: blunck r. Biomedicines. 2021 Jan 14;9(1):75. doi: 10.3390/biomedicines9010075. Biomedicines. 2021. PMID: 33466780 Free PMC article.
41 results