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Mireille Claustres

Showing results (81-90 of 149) with videos related to

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Molecular Genetics & Genomic Medicine|February 6, 2014
Experience of targeted Usher exome sequencing as a clinical testThomas Besnard, Gema García-García, David Baux, et al.
BMC Medical Genetics|April 9, 2004
Molecular epidemiology of DFNB1 deafness in FranceAnne-Françoise Roux, Nathalie Pallares-Ruiz, Anne Vielle, et al.
Epigenomics|July 28, 2018
Dynamic changes of DNA methylation and lung disease in cystic fibrosis: lessons from a monogenic diseaseMilena Magalhães, Jörg Tost, Fanny Pineau, et al.
Human Mutation|June 20, 2014
Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspotsDavid Baux, Catherine Blanchet, Christian Hamel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 9, 2015
Small-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosisJennifer Bonini, Jessica Varilh, Caroline Raynal, et al.
European Journal of Human Genetics : EJHG|December 17, 2015
Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2)Claire Guissart, Nathalie Drouot, Ibrahim Oncel, 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.
Human Mutation|May 8, 2013
Dissecting the structure and mechanism of a complex duplication-triplication rearrangement in the DMD geneAliya Ishmukhametova, Jian-Min Chen, Rafaëlle Bernard, et al.
European Journal of Human Genetics : EJHG|August 15, 2013
Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)Mireille Claustres, Viktor Kožich, Els Dequeker, et al.
Human Mutation|October 20, 2011
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapyChristel Vaché, Thomas Besnard, Pauline le Berre, et al.
Pageof 15

Showing results (81-90 of 149) with videos related to

Sort By:
Pageof 15
Molecular Genetics & Genomic Medicine|February 6, 2014
Experience of targeted Usher exome sequencing as a clinical testThomas Besnard, Gema García-García, David Baux, et al.
BMC Medical Genetics|April 9, 2004
Molecular epidemiology of DFNB1 deafness in FranceAnne-Françoise Roux, Nathalie Pallares-Ruiz, Anne Vielle, et al.
Epigenomics|July 28, 2018
Dynamic changes of DNA methylation and lung disease in cystic fibrosis: lessons from a monogenic diseaseMilena Magalhães, Jörg Tost, Fanny Pineau, et al.
Human Mutation|June 20, 2014
Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspotsDavid Baux, Catherine Blanchet, Christian Hamel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 9, 2015
Small-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosisJennifer Bonini, Jessica Varilh, Caroline Raynal, et al.
European Journal of Human Genetics : EJHG|December 17, 2015
Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2)Claire Guissart, Nathalie Drouot, Ibrahim Oncel, 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.
Human Mutation|May 8, 2013
Dissecting the structure and mechanism of a complex duplication-triplication rearrangement in the DMD geneAliya Ishmukhametova, Jian-Min Chen, Rafaëlle Bernard, et al.
European Journal of Human Genetics : EJHG|August 15, 2013
Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)Mireille Claustres, Viktor Kožich, Els Dequeker, et al.
Human Mutation|October 20, 2011
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapyChristel Vaché, Thomas Besnard, Pauline le Berre, et al.
Pageof 15