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Mireille Claustres

Showing results (31-40 of 149) with videos related to

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The Laryngoscope|April 20, 2004
Nonsyndromic 35 delG mutation of the connexin 26 gene associated with deafness in syndromic children: two case reportsFrédéric Venail, Anne-Françoise Roux, Nathalie Pallares-Ruiz, et al.
Neurogenetics|May 28, 2002
A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze FamilyValérie Delague, Corinne Bareil, Patrice Bouvagnet, et al.
Human Mutation|April 17, 2009
UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2Mélissa Yana Frédéric, Marine Lalande, Catherine Boileau, et al.
Scientific Reports|February 12, 2016
Assessment of the latest NGS enrichment capture methods in clinical contextGema García-García, David Baux, Valérie Faugère, et al.
Thrombosis and Haemostasis|May 26, 2012
Lethal factor VII deficiency due to novel mutations in the F7 promoter: functional analysis reveals disruption of HNF4 binding siteMuriel Giansily-Blaizot, Estelle Lopez, Victoria Viart, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|February 9, 2005
High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean FranceMarie des Georges, Caroline Guittard, Jean-Pierre Altiéri, et al.
The Journal of Molecular Diagnostics : JMD|July 19, 2016
Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of DystrophinopathiesMelissa Alame, Delphine Lacourt, Reda Zenagui, et al.
The Journal of Molecular Diagnostics : JMD|October 4, 2008
WGA allows the molecular characterization of a novel large CFTR rearrangement in a black South African cystic fibrosis patientMarie des Georges, Caroline Guittard, Carine Templin, et al.
Human Mutation|July 28, 2011
DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 geneArnaud Blanchard, Vuthy Ea, Agathe Roubertie, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 15, 2014
Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapyMarie Pierre Audrézet, Anne Munck, Virginie Scotet, et al.
Pageof 15

Showing results (31-40 of 149) with videos related to

Sort By:
Pageof 15
The Laryngoscope|April 20, 2004
Nonsyndromic 35 delG mutation of the connexin 26 gene associated with deafness in syndromic children: two case reportsFrédéric Venail, Anne-Françoise Roux, Nathalie Pallares-Ruiz, et al.
Neurogenetics|May 28, 2002
A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze FamilyValérie Delague, Corinne Bareil, Patrice Bouvagnet, et al.
Human Mutation|April 17, 2009
UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2Mélissa Yana Frédéric, Marine Lalande, Catherine Boileau, et al.
Scientific Reports|February 12, 2016
Assessment of the latest NGS enrichment capture methods in clinical contextGema García-García, David Baux, Valérie Faugère, et al.
Thrombosis and Haemostasis|May 26, 2012
Lethal factor VII deficiency due to novel mutations in the F7 promoter: functional analysis reveals disruption of HNF4 binding siteMuriel Giansily-Blaizot, Estelle Lopez, Victoria Viart, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|February 9, 2005
High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean FranceMarie des Georges, Caroline Guittard, Jean-Pierre Altiéri, et al.
The Journal of Molecular Diagnostics : JMD|July 19, 2016
Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of DystrophinopathiesMelissa Alame, Delphine Lacourt, Reda Zenagui, et al.
The Journal of Molecular Diagnostics : JMD|October 4, 2008
WGA allows the molecular characterization of a novel large CFTR rearrangement in a black South African cystic fibrosis patientMarie des Georges, Caroline Guittard, Carine Templin, et al.
Human Mutation|July 28, 2011
DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 geneArnaud Blanchard, Vuthy Ea, Agathe Roubertie, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 15, 2014
Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapyMarie Pierre Audrézet, Anne Munck, Virginie Scotet, et al.
Pageof 15