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Mireille Claustres

Showing results (41-50 of 149) with videos related to

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Plos One|May 12, 2011
Heterochromatic genes undergo epigenetic changes and escape silencing in immunodeficiency, centromeric instability, facial anomalies (ICF) syndromeMarie-Elisabeth Brun, Erica Lana, Isabelle Rivals, et al.
BMC Medical Genetics|April 24, 2007
Large genomic rearrangements in the CFTR gene contribute to CBAVDMagali Taulan, Anne Girardet, Caroline Guittard, et al.
Prenatal Diagnosis|December 13, 2016
Germline mosaicism is a pitfall in PGD for X-linked disorders. Single sperm typing detects very low frequency paternal gonadal mosaicism in a case of recurrent chondrodysplasia punctata misattributed to a maternal originVictoria Viart, Marjolaine Willems, Aliya Ishmukhametova, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 10, 2007
First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean populationMélissa Frédéric, Estelle Lucarz, Christine Monino, et al.
Human Mutation|October 16, 2007
A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2Melissa Yana Frederic, Dalil Hamroun, Laurence Faivre, et al.
Human Mutation|July 17, 2009
Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sitesSandie Le Guédard-Méreuze, Christel Vaché, Nicolas Molinari, et al.
Nucleic Acids Research|September 20, 2005
Binding of serum response factor to cystic fibrosis transmembrane conductance regulator CArG-like elements, as a new potential CFTR transcriptional regulation pathwayCéline René, Magali Taulan, Florence Iral, et al.
International Journal of Molecular Sciences|October 24, 2020
First Identification of RNA-Binding Proteins That Regulate Alternative Exons in the Dystrophin GeneJulie Miro, Anne-Laure Bougé, Eva Murauer, et al.
Human Mutation|December 3, 2015
Whole USH2A Gene Sequencing Identifies Several New Deep Intronic MutationsAlessandro Liquori, Christel Vaché, David Baux, et al.
The European Respiratory Journal|September 5, 2014
Transcription factors and miRNAs that regulate fetal to adult CFTR expression change are new targets for cystic fibrosisVictoria Viart, Anne Bergougnoux, Jennifer Bonini, et al.
Pageof 15

Showing results (41-50 of 149) with videos related to

Sort By:
Pageof 15
Plos One|May 12, 2011
Heterochromatic genes undergo epigenetic changes and escape silencing in immunodeficiency, centromeric instability, facial anomalies (ICF) syndromeMarie-Elisabeth Brun, Erica Lana, Isabelle Rivals, et al.
BMC Medical Genetics|April 24, 2007
Large genomic rearrangements in the CFTR gene contribute to CBAVDMagali Taulan, Anne Girardet, Caroline Guittard, et al.
Prenatal Diagnosis|December 13, 2016
Germline mosaicism is a pitfall in PGD for X-linked disorders. Single sperm typing detects very low frequency paternal gonadal mosaicism in a case of recurrent chondrodysplasia punctata misattributed to a maternal originVictoria Viart, Marjolaine Willems, Aliya Ishmukhametova, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 10, 2007
First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean populationMélissa Frédéric, Estelle Lucarz, Christine Monino, et al.
Human Mutation|October 16, 2007
A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2Melissa Yana Frederic, Dalil Hamroun, Laurence Faivre, et al.
Human Mutation|July 17, 2009
Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sitesSandie Le Guédard-Méreuze, Christel Vaché, Nicolas Molinari, et al.
Nucleic Acids Research|September 20, 2005
Binding of serum response factor to cystic fibrosis transmembrane conductance regulator CArG-like elements, as a new potential CFTR transcriptional regulation pathwayCéline René, Magali Taulan, Florence Iral, et al.
International Journal of Molecular Sciences|October 24, 2020
First Identification of RNA-Binding Proteins That Regulate Alternative Exons in the Dystrophin GeneJulie Miro, Anne-Laure Bougé, Eva Murauer, et al.
Human Mutation|December 3, 2015
Whole USH2A Gene Sequencing Identifies Several New Deep Intronic MutationsAlessandro Liquori, Christel Vaché, David Baux, et al.
The European Respiratory Journal|September 5, 2014
Transcription factors and miRNAs that regulate fetal to adult CFTR expression change are new targets for cystic fibrosisVictoria Viart, Anne Bergougnoux, Jennifer Bonini, et al.
Pageof 15