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

981 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
MobiDetails: online DNA variants interpretation.
Baux D, Van Goethem C, Ardouin O, Guignard T, Bergougnoux A, Koenig M, Roux AF. Baux D, et al. Among authors: koenig m. Eur J Hum Genet. 2021 Feb;29(2):356-360. doi: 10.1038/s41431-020-00755-z. Epub 2020 Nov 7. Eur J Hum Genet. 2021. PMID: 33161418 Free PMC article.
Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.
Baux D, Vaché C, Blanchet C, Willems M, Baudoin C, Moclyn M, Faugère V, Touraine R, Isidor B, Dupin-Deguine D, Nizon M, Vincent M, Mercier S, Calais C, García-García G, Azher Z, Lambert L, Perdomo-Trujillo Y, Giuliano F, Claustres M, Koenig M, Mondain M, Roux AF. Baux D, et al. Among authors: koenig m. Sci Rep. 2017 Dec 1;7(1):16783. doi: 10.1038/s41598-017-16846-9. Sci Rep. 2017. PMID: 29196752 Free PMC article.
MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis.
Yauy K, Baux D, Pegeot H, Van Goethem C, Mathieu C, Guignard T, Juntas Morales R, Lacourt D, Krahn M, Lehtokari VL, Bonne G, Tuffery-Giraud S, Koenig M, Cossée M. Yauy K, et al. Among authors: koenig m. J Mol Diagn. 2018 Jul;20(4):465-473. doi: 10.1016/j.jmoldx.2018.03.009. Epub 2018 Apr 22. J Mol Diagn. 2018. PMID: 29689380 Free article.
Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene.
Bergougnoux A, Délétang K, Pommier A, Varilh J, Houriez F, Altieri JP, Koenig M, Férec C, Claustres M, Lalau G, Bienvenu T, Audrézet MP, Pagin A, Girodon E, Raynal C, Taulan-Cadars M. Bergougnoux A, et al. Among authors: koenig m. J Cyst Fibros. 2019 Jul;18(4):468-475. doi: 10.1016/j.jcf.2018.10.012. Epub 2018 Oct 30. J Cyst Fibros. 2019. PMID: 30389601 Free article.
981 results