অনুসন্ধান ফলাফলগুলি - Valérie Faugère
- প্রদর্শন 1 - 5 ফলাফল এর 5
-
1
-
2
Experience of targeted Usher exome sequencing as a clinical test অনুযায়ী Thomas Besnard, Gema García‐García, David Baux, Christel Vaché, Valérie Faugère, Lise Larrieu, Susana Léonard, José M. Millán, Sue Malcolm, Mireille Claustres, Anne‐Françoise Roux
প্রকাশিত 2013Artigo -
3
Molecular epidemiology of DFNB1 deafness in France অনুযায়ী Anne‐Françoise Roux, Nathalie Pallares‐Ruiz, Anne Vielle, Valérie Faugère, Carine Templin, Dorothée Leprevost, Françoise Artières, Gérard Lina, Nicolas Molinari, Patricia Blanchet, Michel Mondain, Mireille Claustres
প্রকাশিত 2004Artigo -
4
Enrichment of LOVD-USHbases with 152<i>USH2A</i>Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots অনুযায়ী David Baux, Catherine Blanchet, Christian Hamel, Isabelle Meunier, Lise Larrieu, Valérie Faugère, Christel Vaché, Pierangela Castorina, Bernard Puech, Dominique Bonneau, Sue Malcolm, Mireille Claustres, Anne‐Françoise Roux
প্রকাশিত 2014Artigo -
5
Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients অনুযায়ী David Baux, Christel Vaché, Christophe Blanchet, Marjolaine Willems, C. Baudoin, Mélodie Moclyn, Valérie Faugère, Renaud Touraine, Bertrand Isidor, Delphine Dupin‐Deguine, Mathilde Nizon, Marie Vincent, Sandra Mercier, C. Calais, Gema García‐García, Zohor A. Azher, Linda M. Lambert, Y. Perdomo-Trujillo, Fabienne Giuliano, Mireille Claustres, M. Kœnig, Michel Mondain, Anne‐Françoise Roux
প্রকাশিত 2017Artigo
অনুসন্ধান সাধনীগুলি:
সম্পর্কিত বিষয়
Biology
Gene
Genetics
Medicine
Bioinformatics
Computational biology
Genetic heterogeneity
Mutation
Phenotype
Retinitis pigmentosa
Usher syndrome
Audiology
Chromosome
Cohort
Computer science
Context (archaeology)
Cytogenetics
DNA sequencing
Data mining
Epidemiology
Epistemology
Exome
Exome sequencing
Gene isoform
Genotype
Haplotype
Hearing loss
Human genetics
In silico
Internal medicine