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Natacha Martin

Showing results (1-10 of 12) with videos related to

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Blood Cells, Molecules & Diseases|July 28, 2009
A rare G6PD variant (c.383T>G; p.128Leu>Arg) with a molecular pathophysiological mechanism similar to that of G6PD A- (68Val>Met, 126Asn>Asp)Kamran Moradkhani, Michel Bahuau, Claude Préhu, et al.
Chemosphere|October 15, 2020
Efficient Cu removal from CuEDTA complex-containing wastewater using electrochemically controlled sacrificial iron anodeVinh Ya, Natacha Martin, Yi-Hsuan Chou, et al.
Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases|August 13, 2013
Genetic characterization of Plasmodium falciparum allelic variants infecting mothers at delivery and their children during their first plasmodial infectionsCélia Dechavanne, Charlotte Pierrat, Emmanuelle Renard, et al.
Human Mutation|February 20, 2013
Combined computational-experimental analyses of CFTR exon strength uncover predictability of exon-skipping levelAbdel Aissat, Alix de Becdelièvre, Lisa Golmard, et al.
Human Mutation|October 16, 2012
Alternative splicing of in-frame exon associated with premature termination codons: implications for readthrough therapiesAlexandre Hinzpeter, Abdel Aissat, Alix de Becdelièvre, et al.
Clinical Case Reports|May 5, 2017
The importance of functional tests to assess the effect of a new <i>CFTR</i> variant when genotype-phenotype correlation is not possibleAlexandre Hinzpeter, Marie-Pierre Reboul, Isabelle Callebaut, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|December 20, 2020
Exon identity influences splicing induced by exonic variants and in silico prediction efficacyNatacha Martin, Anne Bergougnoux, Nesrine Baatallah, et al.
Human Mutation|March 18, 2014
Identification of a novel 5' alternative CFTR mRNA isoform in a patient with nasal polyposis and CFTR mutationsAlexandre Hinzpeter, Alix de Becdelièvre, Eric Bieth, et al.
Plos Genetics|October 16, 2010
Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifierAlexandre Hinzpeter, Abdel Aissat, Elvira Sondo, et al.
Human Mutation|August 10, 2004
Genotype-phenotype correlation in von Hippel-Lindau families with renal lesionsCatherine Gallou, Dominique Chauveau, Stéphane Richard, et al.
Pageof 2

Showing results (1-10 of 12) with videos related to

Sort By:
Pageof 2
Blood Cells, Molecules & Diseases|July 28, 2009
A rare G6PD variant (c.383T>G; p.128Leu>Arg) with a molecular pathophysiological mechanism similar to that of G6PD A- (68Val>Met, 126Asn>Asp)Kamran Moradkhani, Michel Bahuau, Claude Préhu, et al.
Chemosphere|October 15, 2020
Efficient Cu removal from CuEDTA complex-containing wastewater using electrochemically controlled sacrificial iron anodeVinh Ya, Natacha Martin, Yi-Hsuan Chou, et al.
Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases|August 13, 2013
Genetic characterization of Plasmodium falciparum allelic variants infecting mothers at delivery and their children during their first plasmodial infectionsCélia Dechavanne, Charlotte Pierrat, Emmanuelle Renard, et al.
Human Mutation|February 20, 2013
Combined computational-experimental analyses of CFTR exon strength uncover predictability of exon-skipping levelAbdel Aissat, Alix de Becdelièvre, Lisa Golmard, et al.
Human Mutation|October 16, 2012
Alternative splicing of in-frame exon associated with premature termination codons: implications for readthrough therapiesAlexandre Hinzpeter, Abdel Aissat, Alix de Becdelièvre, et al.
Clinical Case Reports|May 5, 2017
The importance of functional tests to assess the effect of a new <i>CFTR</i> variant when genotype-phenotype correlation is not possibleAlexandre Hinzpeter, Marie-Pierre Reboul, Isabelle Callebaut, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|December 20, 2020
Exon identity influences splicing induced by exonic variants and in silico prediction efficacyNatacha Martin, Anne Bergougnoux, Nesrine Baatallah, et al.
Human Mutation|March 18, 2014
Identification of a novel 5' alternative CFTR mRNA isoform in a patient with nasal polyposis and CFTR mutationsAlexandre Hinzpeter, Alix de Becdelièvre, Eric Bieth, et al.
Plos Genetics|October 16, 2010
Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifierAlexandre Hinzpeter, Abdel Aissat, Elvira Sondo, et al.
Human Mutation|August 10, 2004
Genotype-phenotype correlation in von Hippel-Lindau families with renal lesionsCatherine Gallou, Dominique Chauveau, Stéphane Richard, et al.
Pageof 2