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European Journal of Human Genetics : EJHG
|
December 11, 2020
Correction: MobiDetails: online DNA variants interpretation
David Baux, Charles Van Goethem, Olivier Ardouin, et al.
Human Mutation
|
July 28, 2019
Pitfalls in the interpretation of CFTR variants in the context of incidental findings
Agathe Boussaroque, Anne Bergougnoux, Caroline Raynal, et al.
Prenatal Diagnosis
|
August 13, 2025
Maternal Mosaicism Challenges in Non-Invasive Prenatal Diagnosis
Margot Comel, Marina Lamairia, Odile Boute, et al.
The European Respiratory Journal
|
September 5, 2014
Transcription factors and miRNAs that regulate fetal to adult CFTR expression change are new targets for cystic fibrosis
Victoria Viart, Anne Bergougnoux, Jennifer Bonini, 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.
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.
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.
European Urology
|
January 20, 2021
How Far Should We Explore Hypospadias? Next-generation Sequencing Applied to a Large Cohort of Hypospadiac Patients
Vuthy Ea, Anne Bergougnoux, Pascal Philibert, et al.
Stem Cell Research
|
October 9, 2018
Generation of the induced pluripotent stem cell line UHOMi001-A from a patient with mutations in CCDC40 gene causing Primary Ciliary Dyskinesia (PCD)
Engi Ahmed, Caroline Sansac, Mathieu Fieldes, et al.
Andrology
|
December 18, 2019
Novel ADGRG2 truncating variants in patients with X-linked congenital absence of vas deferens
Adrien Pagin, Anne Bergougnoux, Emmanuelle Girodon, et al.
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Search research articles
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Showing results (11-20 of 43) with videos related to
Sort By:
Page
of 5
European Journal of Human Genetics : EJHG
|
December 11, 2020
Correction: MobiDetails: online DNA variants interpretation
David Baux, Charles Van Goethem, Olivier Ardouin, et al.
Human Mutation
|
July 28, 2019
Pitfalls in the interpretation of CFTR variants in the context of incidental findings
Agathe Boussaroque, Anne Bergougnoux, Caroline Raynal, et al.
Prenatal Diagnosis
|
August 13, 2025
Maternal Mosaicism Challenges in Non-Invasive Prenatal Diagnosis
Margot Comel, Marina Lamairia, Odile Boute, et al.
The European Respiratory Journal
|
September 5, 2014
Transcription factors and miRNAs that regulate fetal to adult CFTR expression change are new targets for cystic fibrosis
Victoria Viart, Anne Bergougnoux, Jennifer Bonini, 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.
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.
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.
European Urology
|
January 20, 2021
How Far Should We Explore Hypospadias? Next-generation Sequencing Applied to a Large Cohort of Hypospadiac Patients
Vuthy Ea, Anne Bergougnoux, Pascal Philibert, et al.
Stem Cell Research
|
October 9, 2018
Generation of the induced pluripotent stem cell line UHOMi001-A from a patient with mutations in CCDC40 gene causing Primary Ciliary Dyskinesia (PCD)
Engi Ahmed, Caroline Sansac, Mathieu Fieldes, et al.
Andrology
|
December 18, 2019
Novel ADGRG2 truncating variants in patients with X-linked congenital absence of vas deferens
Adrien Pagin, Anne Bergougnoux, Emmanuelle Girodon, et al.
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of 5