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Anne Bergougnoux

Showing results (21-30 of 43) with videos related to

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International Journal of Molecular Sciences|April 28, 2023
Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical LaboratoriesKevin Yauy, Charles Van Goethem, Henri Pégeot, et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology|August 7, 2016
CCSP G38A polymorphism environment interactions regulate CCSP levels differentially in COPDLucie Knabe, Jessica Varilh, Anne Bergougnoux, et al.
Human Mutation|November 2, 2019
The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disordersSouphatta Sasorith, David Baux, Anne Bergougnoux, et al.
Clinical Chemistry and Laboratory Medicine|February 11, 2018
Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technologyAnne Bergougnoux, Valeria D'Argenio, Stefanie Sollfrank, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|December 20, 2020
Exon identity influences splicing induced by exonic variants and in silico prediction efficacyNatacha Martin, Anne Bergougnoux, Nesrine Baatallah, et al.
Epigenetics|May 1, 2014
A balance between activating and repressive histone modifications regulates cystic fibrosis transmembrane conductance regulator (CFTR) expression in vivoAnne Bergougnoux, Isabelle Rivals, Alessandro Liquori, et al.
European Journal of Human Genetics : EJHG|May 12, 2023
Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing lossChristel Vaché, Nicolas Cubedo, Luke Mansard, et al.
Clinical Epigenetics|March 15, 2017
DNA methylation at modifier genes of lung disease severity is altered in cystic fibrosisMilena Magalhães, Isabelle Rivals, Mireille Claustres, et al.
American Journal of Medical Genetics. Part A|November 5, 2024
Identification and Characterization of Novel FSHR Copy Number Variations Causing Premature Ovarian InsufficiencyAnna Lokchine, Anne Bergougnoux, Nadège Servant, et al.
European Journal of Human Genetics : EJHG|July 5, 2024
Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosaChristel Vaché, Valérie Faugère, David Baux, et al.
Pageof 5

Showing results (21-30 of 43) with videos related to

Sort By:
Pageof 5
International Journal of Molecular Sciences|April 28, 2023
Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical LaboratoriesKevin Yauy, Charles Van Goethem, Henri Pégeot, et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology|August 7, 2016
CCSP G38A polymorphism environment interactions regulate CCSP levels differentially in COPDLucie Knabe, Jessica Varilh, Anne Bergougnoux, et al.
Human Mutation|November 2, 2019
The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disordersSouphatta Sasorith, David Baux, Anne Bergougnoux, et al.
Clinical Chemistry and Laboratory Medicine|February 11, 2018
Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technologyAnne Bergougnoux, Valeria D'Argenio, Stefanie Sollfrank, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|December 20, 2020
Exon identity influences splicing induced by exonic variants and in silico prediction efficacyNatacha Martin, Anne Bergougnoux, Nesrine Baatallah, et al.
Epigenetics|May 1, 2014
A balance between activating and repressive histone modifications regulates cystic fibrosis transmembrane conductance regulator (CFTR) expression in vivoAnne Bergougnoux, Isabelle Rivals, Alessandro Liquori, et al.
European Journal of Human Genetics : EJHG|May 12, 2023
Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing lossChristel Vaché, Nicolas Cubedo, Luke Mansard, et al.
Clinical Epigenetics|March 15, 2017
DNA methylation at modifier genes of lung disease severity is altered in cystic fibrosisMilena Magalhães, Isabelle Rivals, Mireille Claustres, et al.
American Journal of Medical Genetics. Part A|November 5, 2024
Identification and Characterization of Novel FSHR Copy Number Variations Causing Premature Ovarian InsufficiencyAnna Lokchine, Anne Bergougnoux, Nadège Servant, et al.
European Journal of Human Genetics : EJHG|July 5, 2024
Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosaChristel Vaché, Valérie Faugère, David Baux, et al.
Pageof 5