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Human Mutation
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May 20, 2003
Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy
Sylvie Tuffery-Giraud, Céline Saquet, Sylvie Chambert, et al.
Genome Research
|
May 9, 2002
Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases
Mireille Claustres, Ourania Horaitis, Marijana Vanevski, et al.
European Journal of Human Genetics : EJHG
|
May 14, 2009
A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements
Magali Taulan, Caroline Guittard, Corinne Theze, et al.
Human Mutation
|
November 10, 2005
The UMD TP53 database and website: update and revisions
Dalil Hamroun, Shunsuke Kato, Chikashi Ishioka, et al.
Methods in Molecular Biology (Clifton, N.J.)
|
October 26, 2017
Identification of Splicing Factors Involved in DMD Exon Skipping Events Using an In Vitro RNA Binding Assay
Julie Miro, Cyril F Bourgeois, Mireille Claustres, et al.
European Journal of Human Genetics : EJHG
|
March 16, 2002
A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?
Nathalie Pallares-Ruiz, Patricia Blanchet, Michel Mondain, et al.
Molecular Vision
|
February 6, 2007
Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome
Sandie Le Guédard, Valérie Faugère, Sue Malcolm, et al.
Cellular and Molecular Life Sciences : CMLS
|
March 24, 2010
NF-E2-related factor 2, a key inducer of antioxidant defenses, negatively regulates the CFTR transcription
Céline René, Estelle Lopez, Mireille Claustres, et al.
Plos One
|
April 6, 2013
Phosphorylated C/EBPβ influences a complex network involving YY1 and USF2 in lung epithelial cells
Victoria Viart, Jessica Varilh, Estelle Lopez, et al.
Human Mutation
|
August 9, 2005
UMD (Universal Mutation Database): 2005 update
Christophe Béroud, Dalil Hamroun, Gwenaëlle Collod-Béroud, et al.
Page
of 15
Search research articles
Search
Showing results (11-20 of 149) with videos related to
Sort By:
Page
of 15
Human Mutation
|
May 20, 2003
Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy
Sylvie Tuffery-Giraud, Céline Saquet, Sylvie Chambert, et al.
Genome Research
|
May 9, 2002
Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases
Mireille Claustres, Ourania Horaitis, Marijana Vanevski, et al.
European Journal of Human Genetics : EJHG
|
May 14, 2009
A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements
Magali Taulan, Caroline Guittard, Corinne Theze, et al.
Human Mutation
|
November 10, 2005
The UMD TP53 database and website: update and revisions
Dalil Hamroun, Shunsuke Kato, Chikashi Ishioka, et al.
Methods in Molecular Biology (Clifton, N.J.)
|
October 26, 2017
Identification of Splicing Factors Involved in DMD Exon Skipping Events Using an In Vitro RNA Binding Assay
Julie Miro, Cyril F Bourgeois, Mireille Claustres, et al.
European Journal of Human Genetics : EJHG
|
March 16, 2002
A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?
Nathalie Pallares-Ruiz, Patricia Blanchet, Michel Mondain, et al.
Molecular Vision
|
February 6, 2007
Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome
Sandie Le Guédard, Valérie Faugère, Sue Malcolm, et al.
Cellular and Molecular Life Sciences : CMLS
|
March 24, 2010
NF-E2-related factor 2, a key inducer of antioxidant defenses, negatively regulates the CFTR transcription
Céline René, Estelle Lopez, Mireille Claustres, et al.
Plos One
|
April 6, 2013
Phosphorylated C/EBPβ influences a complex network involving YY1 and USF2 in lung epithelial cells
Victoria Viart, Jessica Varilh, Estelle Lopez, et al.
Human Mutation
|
August 9, 2005
UMD (Universal Mutation Database): 2005 update
Christophe Béroud, Dalil Hamroun, Gwenaëlle Collod-Béroud, et al.
Page
of 15