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Mireille Claustres

Showing results (91-100 of 149) with videos related to

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European Journal of Human Genetics : EJHG|August 19, 2010
p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative studyCéline René, Damien Paulet, Emmanuelle Girodon, et al.
Human Mutation|April 4, 2007
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patientsDavid Baux, Lise Larrieu, Catherine Blanchet, et al.
Human Molecular Genetics|October 29, 2014
Becker muscular dystrophy severity is linked to the structure of dystrophinAurélie Nicolas, Céline Raguénès-Nicol, Rabah Ben Yaou, et al.
European Journal of Human Genetics : EJHG|October 28, 2005
Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populationsFiorenza Pompei, Bianca Maria Ciminelli, Cristina Bombieri, 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.
European Journal of Human Genetics : EJHG|November 26, 2009
New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?Mouna Barat-Houari, Karine Nguyen, Rafaëlle Bernard, et al.
European Journal of Human Genetics : EJHG|March 19, 2009
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 geneChantal Stheneur, Gwenaëlle Collod-Béroud, Laurence Faivre, et al.
European Journal of Human Genetics : EJHG|August 8, 2008
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendationsEls Dequeker, Manfred Stuhrmann, Michael A Morris, et al.
Human Mutation|October 6, 2009
Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domainsPhilippe Khau Van Kien, David Baux, Nathalie Pallares-Ruiz, et al.
Neuromuscular Disorders : NMD|September 8, 2004
The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centreSylvie Tuffery-Giraud, Céline Saquet, Sylvie Chambert, et al.
Pageof 15

Showing results (91-100 of 149) with videos related to

Sort By:
Pageof 15
European Journal of Human Genetics : EJHG|August 19, 2010
p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative studyCéline René, Damien Paulet, Emmanuelle Girodon, et al.
Human Mutation|April 4, 2007
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patientsDavid Baux, Lise Larrieu, Catherine Blanchet, et al.
Human Molecular Genetics|October 29, 2014
Becker muscular dystrophy severity is linked to the structure of dystrophinAurélie Nicolas, Céline Raguénès-Nicol, Rabah Ben Yaou, et al.
European Journal of Human Genetics : EJHG|October 28, 2005
Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populationsFiorenza Pompei, Bianca Maria Ciminelli, Cristina Bombieri, 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.
European Journal of Human Genetics : EJHG|November 26, 2009
New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?Mouna Barat-Houari, Karine Nguyen, Rafaëlle Bernard, et al.
European Journal of Human Genetics : EJHG|March 19, 2009
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 geneChantal Stheneur, Gwenaëlle Collod-Béroud, Laurence Faivre, et al.
European Journal of Human Genetics : EJHG|August 8, 2008
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendationsEls Dequeker, Manfred Stuhrmann, Michael A Morris, et al.
Human Mutation|October 6, 2009
Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domainsPhilippe Khau Van Kien, David Baux, Nathalie Pallares-Ruiz, et al.
Neuromuscular Disorders : NMD|September 8, 2004
The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centreSylvie Tuffery-Giraud, Céline Saquet, Sylvie Chambert, et al.
Pageof 15