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Lise Larrieu

Showing results (1-10 of 25) with videos related to

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Journal of Neurology|April 8, 2015
Pitfalls in ataxia with ocular motor apraxia type 1: pseudodominant inheritance and very late onsetChloé Laurencin, Mathieu Anheim, Lise Larrieu, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|April 28, 2016
A false positive newborn screening result due to a complex allele carrying two frequent CF-causing variantsAnne Bergougnoux, Amandine Boureau-Wirth, Cécile Rouzier, 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.
Neurology. Genetics|March 23, 2018
<i>ACO2</i> mutations: A novel phenotype associating severe optic atrophy and spastic paraplegiaCecilia Marelli, Christian Hamel, Melanie Quiles, 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.
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.
Molecular Vision|October 30, 2014
Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosaGema García-García, Elena Aller, Teresa Jaijo, et al.
European Journal of Human Genetics : EJHG|February 11, 2010
The USH2A c.2299delG mutation: dating its common origin in a Southern European populationElena Aller, Lise Larrieu, Teresa Jaijo, et al.
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.
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.
Pageof 3

Showing results (1-10 of 25) with videos related to

Sort By:
Pageof 3
Journal of Neurology|April 8, 2015
Pitfalls in ataxia with ocular motor apraxia type 1: pseudodominant inheritance and very late onsetChloé Laurencin, Mathieu Anheim, Lise Larrieu, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|April 28, 2016
A false positive newborn screening result due to a complex allele carrying two frequent CF-causing variantsAnne Bergougnoux, Amandine Boureau-Wirth, Cécile Rouzier, 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.
Neurology. Genetics|March 23, 2018
<i>ACO2</i> mutations: A novel phenotype associating severe optic atrophy and spastic paraplegiaCecilia Marelli, Christian Hamel, Melanie Quiles, 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.
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.
Molecular Vision|October 30, 2014
Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosaGema García-García, Elena Aller, Teresa Jaijo, et al.
European Journal of Human Genetics : EJHG|February 11, 2010
The USH2A c.2299delG mutation: dating its common origin in a Southern European populationElena Aller, Lise Larrieu, Teresa Jaijo, et al.
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.
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.
Pageof 3