M P Audrézet - JoVE Visualize

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Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|March 17, 2020

Newborn screening for CF in France: An exemplary national experienceM P Audrézet, A Munck

Human Genetics|April 1, 1993

A novel mutation in exon 3 of the CFTR geneH Guillermit, M Jéhanne, I Quéré, et al.

Human Mutation|January 1, 1993

Detection of more than 94% cystic fibrosis mutations in a sample of Belgian population and identification of four novel mutationsB Mercier, W Lissens, M P Audrézet, et al.

Human Genetics|May 31, 2001

Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counsellingC Le Maréchal, M P Audrézet, I Quéré, et al.

Human Heredity|September 1, 1993

Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patientsM P Audrézet, G Novelli, B Mercier, et al.

Human Genetics|June 1, 1994

Identification of three novel mutations (457 TAT-->G, D192G, Q685X) in the Slovenian CF patientsM P Audrézet, N Canki-Klain, B Mercier, et al.

Human Molecular Genetics|January 1, 1993

Identification of 12 novel mutations in the CFTR geneM P Audrézet, B Mercier, H Guillermit, et al.

Human Genetics|April 1, 1994

Retrospective study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Guthrie cards from a large cohort of neonatal screening for cystic fibrosisC Verlingue, B Mercier, I Lecoq, et al.

Molecular and Cellular Probes|April 1, 1995

Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patientsC Férec, G Novelli, C Verlingue, et al.

Clinical Genetics|July 19, 2002

Quantification of CFTR splice variants in adults with disseminated bronchiectasis, using the TaqMan fluorogenic detection systemJ Andrieux, M P Audrézet, I Frachon, et al.

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Showing results (1-10 of 28) with videos related to

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Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|March 17, 2020

Newborn screening for CF in France: An exemplary national experienceM P Audrézet, A Munck

Human Genetics|April 1, 1993

A novel mutation in exon 3 of the CFTR geneH Guillermit, M Jéhanne, I Quéré, et al.

Human Mutation|January 1, 1993

Detection of more than 94% cystic fibrosis mutations in a sample of Belgian population and identification of four novel mutationsB Mercier, W Lissens, M P Audrézet, et al.

Human Genetics|May 31, 2001

Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counsellingC Le Maréchal, M P Audrézet, I Quéré, et al.

Human Heredity|September 1, 1993

Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patientsM P Audrézet, G Novelli, B Mercier, et al.

Human Genetics|June 1, 1994

Identification of three novel mutations (457 TAT-->G, D192G, Q685X) in the Slovenian CF patientsM P Audrézet, N Canki-Klain, B Mercier, et al.

Human Molecular Genetics|January 1, 1993

Identification of 12 novel mutations in the CFTR geneM P Audrézet, B Mercier, H Guillermit, et al.

Human Genetics|April 1, 1994

Retrospective study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Guthrie cards from a large cohort of neonatal screening for cystic fibrosisC Verlingue, B Mercier, I Lecoq, et al.

Molecular and Cellular Probes|April 1, 1995

Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patientsC Férec, G Novelli, C Verlingue, et al.

Clinical Genetics|July 19, 2002

Quantification of CFTR splice variants in adults with disseminated bronchiectasis, using the TaqMan fluorogenic detection systemJ Andrieux, M P Audrézet, I Frachon, et al.

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