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Cellular and Molecular Biology (Noisy-Le-Grand, France)|August 21, 2022
Three Complex alleles associated with N1303K mutation and their molecular consequencesRaëd Farhat, Ayman El-Seedy, Marie-Claude Pasquet, et al.Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|December 25, 2012
Consequences of partial duplications of the human CFTR gene on cf diagnosis: mutations or ectopic variationsAyman El-Seedy, Marie-Claude Pasquet, Thiery Bienvenu, et al.Cellular and Molecular Biology (Noisy-Le-Grand, France)|December 7, 2017
Complexity of phenotypes induced by p.Asn1303Lys-CFTR correlates with difficulty to rescue and activate this proteinRaëd Farhat, Ayman El-Seedy, Caroline Norez, et al.The Journal of Molecular Diagnostics : JMD|August 28, 2009
Influence of the duplication of CFTR exon 9 and its flanking sequences on diagnosis of cystic fibrosis mutationsAyman El-Seedy, Tony Dudognon, Frédéric Bilan, et al.Biomed Research International|June 16, 2015
N1303K (c.3909C>G) mutation and splicing: implication of its c.[744-33GATT(6); 869+11C>T] complex allele in CFTR exon 7 aberrant splicingRaëd Farhat, Géraldine Puissesseau, Ayman El-Seedy, et al.Comptes Rendus Biologies|August 9, 2017
In cellulo analyses of the p.Val322Ala mutation on the CFTR protein conformation and activityRaëd Farhat, Ayman El-Seedy, Ariestya Indah Permata Sari, et al.Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire|November 19, 2014
Multi-physiopathological consequences of the c.1392G>T CFTR mutation revealed by clinical and cellular investigationsRaed Farhat, Ayman El-Seedy, Kamal El-Moussaoui, et al.Human Mutation|June 9, 2012
CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomesAyman El-Seedy, Emmanuelle Girodon, Caroline Norez, et al.Pageof 1