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E Girodon

Showing results (41-50 of 54) with videos related to

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Human Genetics|September 10, 1999
Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) aloneM C Romey, C Guittard, J P Chazalette, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|November 4, 2018
Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR geneA Bergougnoux, K Délétang, A Pommier, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|March 5, 2017
[Management of infants whose diagnosis is inconclusive at neonatal screening for cystic fibrosis]I Sermet-Gaudelus, J Brouard, M-P Audrézet, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|November 28, 2017
Guidelines for the clinical management and follow-up of infants with inconclusive cystic fibrosis diagnosis through newborn screeningI Sermet-Gaudelus, J Brouard, M-P Audrézet, et al.
American Journal of Human Genetics|October 6, 2000
Identification of MEFV-independent modifying genetic factors for familial Mediterranean feverC Cazeneuve, H Ajrapetyan, S Papin, et al.
Human Mutation|August 3, 2000
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in FranceM Claustres, C Guittard, D Bozon, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|February 22, 2024
ECFS standards of care on CFTR-related disorders: Towards a comprehensive program for affected individualsE De Wachter, K De Boeck, I Sermet-Gaudelus, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|May 6, 2008
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practiceC Castellani, H Cuppens, M Macek, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|March 20, 2024
ECFS standards of care on CFTR-related disorders: Identification and care of the disordersN J Simmonds, K W Southern, E De Wachter, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|December 25, 2022
The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapyA Bergougnoux, A Billet, C Ka, et al.
Pageof 6

Showing results (41-50 of 54) with videos related to

Sort By:
Pageof 6
Human Genetics|September 10, 1999
Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) aloneM C Romey, C Guittard, J P Chazalette, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|November 4, 2018
Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR geneA Bergougnoux, K Délétang, A Pommier, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|March 5, 2017
[Management of infants whose diagnosis is inconclusive at neonatal screening for cystic fibrosis]I Sermet-Gaudelus, J Brouard, M-P Audrézet, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|November 28, 2017
Guidelines for the clinical management and follow-up of infants with inconclusive cystic fibrosis diagnosis through newborn screeningI Sermet-Gaudelus, J Brouard, M-P Audrézet, et al.
American Journal of Human Genetics|October 6, 2000
Identification of MEFV-independent modifying genetic factors for familial Mediterranean feverC Cazeneuve, H Ajrapetyan, S Papin, et al.
Human Mutation|August 3, 2000
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in FranceM Claustres, C Guittard, D Bozon, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|February 22, 2024
ECFS standards of care on CFTR-related disorders: Towards a comprehensive program for affected individualsE De Wachter, K De Boeck, I Sermet-Gaudelus, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|May 6, 2008
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practiceC Castellani, H Cuppens, M Macek, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|March 20, 2024
ECFS standards of care on CFTR-related disorders: Identification and care of the disordersN J Simmonds, K W Southern, E De Wachter, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|December 25, 2022
The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapyA Bergougnoux, A Billet, C Ka, et al.
Pageof 6