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Human Mutation
|
July 8, 2010
UMD-CFTR: a database dedicated to CF and CFTR-related disorders
Corinne Bareil, Corinne Thèze, Christophe Béroud, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|
April 28, 2016
A false positive newborn screening result due to a complex allele carrying two frequent CF-causing variants
Anne Bergougnoux, Amandine Boureau-Wirth, Cécile Rouzier, et al.
Gene
|
April 10, 2012
Identification of a novel duplication CFTRdup2 and functional impact of large rearrangements identified in the CFTR gene
Magali Taulan, Victoria Viart, Corinne Theze, et al.
Scientific Reports
|
January 4, 2017
Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle
Anne-Laure Bougé, Eva Murauer, Emmanuelle Beyne, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|
March 24, 2015
Should diffuse bronchiectasis still be considered a CFTR-related disorder?
Anne Bergougnoux, Victoria Viart, Julie Miro, et al.
Human Mutation
|
February 6, 2013
A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene
Caroline Raynal, David Baux, Corinne Theze, et al.
Molecular Vision
|
February 27, 2013
The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort
Gema García-García, Thomas Besnard, David Baux, et al.
Clinical Chemistry and Laboratory Medicine
|
October 3, 2014
Non-invasive prenatal diagnosis of monogenic disorders: an optimized protocol using MEMO qPCR with miniSTR as internal control
Claire Guissart, Vanessa Debant, Marie Desgeorges, et al.
The Journal of Pathology
|
October 23, 2020
miRNA repertoires of cystic fibrosis ex vivo models highlight miR-181a and miR-101 that regulate WISP1 expression
Alexandra Pommier, Jessica Varilh, Solenne Bleuse, et al.
Clinical Epigenetics
|
December 6, 2025
DNA methylation predicts lung function and pulmonary exacerbation in sputum samples from patients with cystic fibrosis
Jorg Tost, Davide Caimmi, Manuela Pastore, et al.
Page
of 15
Search research articles
Search
Showing results (51-60 of 149) with videos related to
Sort By:
Page
of 15
Human Mutation
|
July 8, 2010
UMD-CFTR: a database dedicated to CF and CFTR-related disorders
Corinne Bareil, Corinne Thèze, Christophe Béroud, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|
April 28, 2016
A false positive newborn screening result due to a complex allele carrying two frequent CF-causing variants
Anne Bergougnoux, Amandine Boureau-Wirth, Cécile Rouzier, et al.
Gene
|
April 10, 2012
Identification of a novel duplication CFTRdup2 and functional impact of large rearrangements identified in the CFTR gene
Magali Taulan, Victoria Viart, Corinne Theze, et al.
Scientific Reports
|
January 4, 2017
Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle
Anne-Laure Bougé, Eva Murauer, Emmanuelle Beyne, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|
March 24, 2015
Should diffuse bronchiectasis still be considered a CFTR-related disorder?
Anne Bergougnoux, Victoria Viart, Julie Miro, et al.
Human Mutation
|
February 6, 2013
A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene
Caroline Raynal, David Baux, Corinne Theze, et al.
Molecular Vision
|
February 27, 2013
The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort
Gema García-García, Thomas Besnard, David Baux, et al.
Clinical Chemistry and Laboratory Medicine
|
October 3, 2014
Non-invasive prenatal diagnosis of monogenic disorders: an optimized protocol using MEMO qPCR with miniSTR as internal control
Claire Guissart, Vanessa Debant, Marie Desgeorges, et al.
The Journal of Pathology
|
October 23, 2020
miRNA repertoires of cystic fibrosis ex vivo models highlight miR-181a and miR-101 that regulate WISP1 expression
Alexandra Pommier, Jessica Varilh, Solenne Bleuse, et al.
Clinical Epigenetics
|
December 6, 2025
DNA methylation predicts lung function and pulmonary exacerbation in sputum samples from patients with cystic fibrosis
Jorg Tost, Davide Caimmi, Manuela Pastore, et al.
Page
of 15