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Mireille Claustres

Showing results (61-70 of 149) with videos related to

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British Journal of Haematology|July 7, 2007
Characterisation of a large complex intragenic re-arrangement in the FVII gene (F7) avoiding misdiagnosis in inherited factor VII deficiencyMuriel Giansily-Blaizot, Delphine Thorel, Philippe Khau Van Kien, et al.
Human Mutation|May 20, 2008
UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genesDavid Baux, Valérie Faugère, Lise Larrieu, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 12, 2010
Long-term follow-up of DYT1 dystonia patients treated by deep brain stimulation: an open-label studyLaura Cif, Xavier Vasques, Victoria Gonzalez, et al.
Human Mutation|February 10, 2011
Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations?Mouna Messaoud Khelifi, Aliya Ishmukhametova, Philippe Khau Van Kien, et al.
Journal of Neurology|May 28, 2016
Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxiaMathilde Renaud, Claire Guissart, Martial Mallaret, et al.
Journal of Medical Genetics|October 26, 2010
Variants in CFTR untranslated regions are associated with congenital bilateral absence of the vas deferensEstelle Lopez, Victoria Viart, Caroline Guittard, et al.
Human Mutation|June 1, 2010
Nasal epithelial cells are a reliable source to study splicing variants in Usher syndromeChristel Vaché, Thomas Besnard, Catherine Blanchet, et al.
Plos One|April 18, 2020
Blood co-expression modules identify potential modifier genes of diabetes and lung function in cystic fibrosisFanny Pineau, Davide Caimmi, Milena Magalhães, et al.
Genes|April 3, 2021
DNA Methylation at <i>ATP11A</i> cg11702988 Is a Biomarker of Lung Disease Severity in Cystic Fibrosis: A Longitudinal StudyFanny Pineau, Davide Caimmi, Sylvie Taviaux, et al.
Human Mutation|January 7, 2010
Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genesSandie Le Guédard-Méreuze, Christel Vaché, David Baux, et al.
Pageof 15

Showing results (61-70 of 149) with videos related to

Sort By:
Pageof 15
British Journal of Haematology|July 7, 2007
Characterisation of a large complex intragenic re-arrangement in the FVII gene (F7) avoiding misdiagnosis in inherited factor VII deficiencyMuriel Giansily-Blaizot, Delphine Thorel, Philippe Khau Van Kien, et al.
Human Mutation|May 20, 2008
UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genesDavid Baux, Valérie Faugère, Lise Larrieu, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 12, 2010
Long-term follow-up of DYT1 dystonia patients treated by deep brain stimulation: an open-label studyLaura Cif, Xavier Vasques, Victoria Gonzalez, et al.
Human Mutation|February 10, 2011
Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations?Mouna Messaoud Khelifi, Aliya Ishmukhametova, Philippe Khau Van Kien, et al.
Journal of Neurology|May 28, 2016
Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxiaMathilde Renaud, Claire Guissart, Martial Mallaret, et al.
Journal of Medical Genetics|October 26, 2010
Variants in CFTR untranslated regions are associated with congenital bilateral absence of the vas deferensEstelle Lopez, Victoria Viart, Caroline Guittard, et al.
Human Mutation|June 1, 2010
Nasal epithelial cells are a reliable source to study splicing variants in Usher syndromeChristel Vaché, Thomas Besnard, Catherine Blanchet, et al.
Plos One|April 18, 2020
Blood co-expression modules identify potential modifier genes of diabetes and lung function in cystic fibrosisFanny Pineau, Davide Caimmi, Milena Magalhães, et al.
Genes|April 3, 2021
DNA Methylation at <i>ATP11A</i> cg11702988 Is a Biomarker of Lung Disease Severity in Cystic Fibrosis: A Longitudinal StudyFanny Pineau, Davide Caimmi, Sylvie Taviaux, et al.
Human Mutation|January 7, 2010
Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genesSandie Le Guédard-Méreuze, Christel Vaché, David Baux, et al.
Pageof 15