檢索結果 - Valérie Faugère
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Enrichment of LOVD-USHbases with 152<i>USH2A</i>Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots 由 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
出版 2014Artigo -
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Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients 由 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
出版 2017Artigo
相關主題
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