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Mireille Claustres

Showing results (101-110 of 149) with videos related to

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Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|December 24, 2021
Reclassifying inconclusive diagnosis after newborn screening for cystic fibrosis. Moving forwardAurelie Hatton, Anne Bergougnoux, Katarzyna Zybert, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|March 5, 2009
The p.Asp216His TOR1A allele effect is not found in the French populationMélissa Yana Frédéric, Fabienne Clot, Arnaud Blanchard, et al.
Journal of Neurology|October 16, 2019
ATP8A2-related disorders as recessive cerebellar ataxiaClaire Guissart, Alexander N Harrison, Mehdi Benkirane, et al.
European Journal of Human Genetics : EJHG|November 13, 2004
A large-scale study of the random variability of a coding sequence: a study on the CFTR geneGuido Modiano, Cristina Bombieri, Bianca Maria Ciminelli, et al.
European Journal of Human Genetics : EJHG|May 28, 2015
The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensusAnne Girardet, Victoria Viart, Stéphanie Plaza, et al.
Human Mutation|September 4, 2008
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlationsMelissa Yana Frédéric, Christine Monino, Christoph Marschall, et al.
Human Mutation|September 5, 2003
CFTR genotypes in patients with normal or borderline sweat chloride levelsDelphine Feldmann, Remy Couderc, Marie-Pierre Audrezet, et al.
Molecular Therapy. Nucleic Acids|November 2, 2016
Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic MutationRadulfus Wn Slijkerman, Christel Vaché, Margo Dona, et al.
Annals of Human Biology|June 1, 2007
An mtDNA perspective of French genetic variationChrystelle Richard, Erwan Pennarun, Toomas Kivisild, et al.
Human Mutation|October 17, 2006
Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophyChristophe Béroud, Sylvie Tuffery-Giraud, Masafumi Matsuo, et al.
Pageof 15

Showing results (101-110 of 149) with videos related to

Sort By:
Pageof 15
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|December 24, 2021
Reclassifying inconclusive diagnosis after newborn screening for cystic fibrosis. Moving forwardAurelie Hatton, Anne Bergougnoux, Katarzyna Zybert, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|March 5, 2009
The p.Asp216His TOR1A allele effect is not found in the French populationMélissa Yana Frédéric, Fabienne Clot, Arnaud Blanchard, et al.
Journal of Neurology|October 16, 2019
ATP8A2-related disorders as recessive cerebellar ataxiaClaire Guissart, Alexander N Harrison, Mehdi Benkirane, et al.
European Journal of Human Genetics : EJHG|November 13, 2004
A large-scale study of the random variability of a coding sequence: a study on the CFTR geneGuido Modiano, Cristina Bombieri, Bianca Maria Ciminelli, et al.
European Journal of Human Genetics : EJHG|May 28, 2015
The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensusAnne Girardet, Victoria Viart, Stéphanie Plaza, et al.
Human Mutation|September 4, 2008
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlationsMelissa Yana Frédéric, Christine Monino, Christoph Marschall, et al.
Human Mutation|September 5, 2003
CFTR genotypes in patients with normal or borderline sweat chloride levelsDelphine Feldmann, Remy Couderc, Marie-Pierre Audrezet, et al.
Molecular Therapy. Nucleic Acids|November 2, 2016
Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic MutationRadulfus Wn Slijkerman, Christel Vaché, Margo Dona, et al.
Annals of Human Biology|June 1, 2007
An mtDNA perspective of French genetic variationChrystelle Richard, Erwan Pennarun, Toomas Kivisild, et al.
Human Mutation|October 17, 2006
Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophyChristophe Béroud, Sylvie Tuffery-Giraud, Masafumi Matsuo, et al.
Pageof 15