Resultados da pesquisa - Sabine Pagès-Berhouet
- A mostrar 1 - 3 resultados de 3
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1
A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation Por Catherine Dehainault, Dorothée Michaux, Sabine Pagès-Berhouet, Virginie Caux‐Moncoutier, François Doz, Laurence Desjardins, Jérôme Couturier, Philippe Parent, Dominique Stoppa‐Lyonnet, Marion Gauthier‐Villars, Claude Houdayer
Publicado em 2007Artigo -
2
Evaluation of in silico splice tools for decision-making in molecular diagnosis Por Claude Houdayer, Catherine Dehainault, Christophe Mattler, Dorothée Michaux, Virginie Caux‐Moncoutier, Sabine Pagès-Berhouet, Catherine Dubois d’Enghien, Anthony Laugé, Laurent Castéra, Marion Gauthier‐Villars, Dominique Stoppa‐Lyonnet
Publicado em 2008Artigo -
3
Comprehensive screening for constitutional <i>RB1</i> mutations by DHPLC and QMPSF Por Claude Houdayer, Marion Gauthier‐Villars, Anthony Laugé, Sabine Pagès-Berhouet, Catherine Dehainault, Virginie Caux‐Moncoutier, P. Karczynski, Mario Tosi, François Doz, Laurence Desjardins, J Couturier, Dominique Stoppa‐Lyonnet
Publicado em 2004Artigo
Ferramentas de pesquisa:
Assuntos relacionados
Biology
Computational biology
Gene
Genetics
Exon
Mutation
Alternative splicing
Denaturing high performance liquid chromatography
Enhancer
Gene expression
Genetic counseling
Genetic testing
In silico
Intron
Multiplex
Multiplex ligation-dependent probe amplification
Point mutation
Proband
RNA
RNA splicing
Retinoblastoma
Sequence (biology)
Splice site mutation
splice