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Your search keyword '"Chadia Mekki"' showing total 4 results
Start Over Author "Chadia Mekki" Journal journal of cystic fibrosis
4 results on '"Chadia Mekki"'

1. WS21.3 Overview of shared benefits from the 6-year long collaboration between the French Cystic Fibrosis Registry and the CFTR-France genetics database

Author

Anne Bergougnoux, Claude Férec, Eric Bieth, Patricia Fergelot, Pascale Fanen, Guy Lalau, A. Farge, M.-P. Audrézet, Chadia Mekki, V. Gaston, E. Girodon, M.-P. Reboul, Mireille Claustres, M.-C. Malinge, Thierry Bienvenu, Clémence Dehillotte, Lydie Lemonnier, F. Dufernez, A. Pagin, S. Sasorith, C. Raynal, F. Cabet, and C. Bareil

Subjects
Pulmonary and Respiratory Medicine, medicine.medical_specialty, business.industry, Family medicine, Pediatrics, Perinatology and Child Health, medicine, business, medicine.disease, Cystic fibrosis
Published
2020
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2. 4 The novel p.Cys1410* mutation causes severe neonatal CF in a Western Sub-Saharan African family

Author

A. de Becdelièvre, M. Gérardin, A. Le Floch, Thierry Bienvenu, Chadia Mekki, E. Eche, V. Mirlesse, E. Girodon, A. Rideau, and Pascale Fanen

Subjects
Pulmonary and Respiratory Medicine, Genetics, Sub saharan, business.industry, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Medicine, business, medicine.disease, Cystic fibrosis
Published
2017
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3. WS17.1 The multi-faceted nature of CFTR exonic mutations: impact on their functional classification

Author

A. Pagin, Lydie Lemonnier, M.-P. Audrézet, Eric Bieth, Alain Kitzis, M.-C. Malinge, Anne Bergougnoux, Michel Koenig, V. Thoreau, E. Girodon, Claude Férec, S. Sasorith, Mireille Claustres, C. Raynal, M.-P. Reboul, Guy Lalau, Chadia Mekki, Pascale Fanen, Patricia Fergelot, M.-L. Winter, Frédéric Becq, Thierry Bienvenu, C. Bareil, V. Gaston, M. Heller, and C. Thèze

Subjects
Pulmonary and Respiratory Medicine, business.industry, Pediatrics, Perinatology and Child Health, medicine, Computational biology, medicine.disease, business, Cystic fibrosis
Published
2018
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4. WS15.1 CysMA, a new tool for the interpretation of rare CFTR missense variants

Author

Eric Bieth, Alain Kitzis, M.-C. Malinge, C. Thèze, M.-P. Reboul, E. Girodon, Mireille Claustres, C. Raynal, David Baux, C. Bareil, Pascale Fanen, Claude Férec, Anne Bergougnoux, V. Colomb-Jung, Patricia Fergelot, M.-P. Audrézet, Guy Lalau, S. Sasorith, Thierry Bienvenu, V. Gaston, Chadia Mekki, and A. Pagin

Subjects
Pulmonary and Respiratory Medicine, Genetics, business.industry, Pediatrics, Perinatology and Child Health, medicine, Missense mutation, medicine.disease, business, Cystic fibrosis, Interpretation (model theory)
Published
2017
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