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M Claustres

Showing results (121-130 of 143) 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 Francais D'Ophtalmologie|January 5, 2001
[Molecular genetics of pigmentary retinopathies: identification of mutations in CHM, RDS, RHO, RPE65, USH2A and XLRS1 genes]C P Hamel, J M Griffoin, C Bazalgette, 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.
Pathologie-Biologie|December 4, 2009
[Genetic mutation databases: stakes and perspectives for orphan genetic diseases]V Humbertclaude, S Tuffery-Giraud, C Bareil, et al.
Human Genetics|April 4, 2000
A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individualsC Bombieri, S Giorgi, S Carles, et al.
Human Mutation|August 30, 2007
A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databasesR G H Cotton, A D Auerbach, A F Brown, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|January 2, 2017
Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutationC Guissart, C Dubucs, C Raynal, et al.
Nature Genetics|June 16, 1999
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13J Zielenski, M Corey, R Rozmahel, et al.
Scientific Reports|December 3, 2017
Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patientsD Baux, C Vaché, C Blanchet, 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.
Pageof 15

Showing results (121-130 of 143) with videos related to

Sort By:
Pageof 15
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 Francais D'Ophtalmologie|January 5, 2001
[Molecular genetics of pigmentary retinopathies: identification of mutations in CHM, RDS, RHO, RPE65, USH2A and XLRS1 genes]C P Hamel, J M Griffoin, C Bazalgette, 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.
Pathologie-Biologie|December 4, 2009
[Genetic mutation databases: stakes and perspectives for orphan genetic diseases]V Humbertclaude, S Tuffery-Giraud, C Bareil, et al.
Human Genetics|April 4, 2000
A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individualsC Bombieri, S Giorgi, S Carles, et al.
Human Mutation|August 30, 2007
A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databasesR G H Cotton, A D Auerbach, A F Brown, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|January 2, 2017
Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutationC Guissart, C Dubucs, C Raynal, et al.
Nature Genetics|June 16, 1999
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13J Zielenski, M Corey, R Rozmahel, et al.
Scientific Reports|December 3, 2017
Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patientsD Baux, C Vaché, C Blanchet, 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.
Pageof 15