Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

C Bareil

Showing results (11-20 of 21) with videos related to

Pageof 3
Sort By:
Journal of Virology|July 1, 1997
Stability of AML1 (core) site enhancer mutations in T lymphomas induced by attenuated SL3-3 murine leukemia virus mutantsH W Amtoft, A B Sørensen, C Bareil, et al.
Annals of Neurology|August 17, 2001
Nonprogressive autosomal recessive ataxia maps to chromosome 9q34-9qter in a large consanguineous Lebanese familyV Delague, C Bareil, P Bouvagnet, et al.
Human Genetics|April 17, 1998
Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation testS Tuffery, S Chambert, C Bareil, et al.
Journal Francais D'Ophtalmologie|October 6, 1998
[Clinical features and genetic analysis in a family with X-linked incomplete congenital stationary night blindness (CSNBi)]C F Schmitt-Bernard, C Bareil, C P Hamel, et al.
American Journal of Human Genetics|June 10, 2000
Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate geneV Delague, C Bareil, S Tuffery, et al.
Human Molecular Genetics|February 7, 2001
A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth diseaseA Guilbot, A Williams, N Ravisé, et al.
Nature Genetics|November 5, 1997
Mutations in RPE65 cause Leber's congenital amaurosisF Marlhens, C Bareil, J M Griffoin, 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.
Pathologie-Biologie|December 4, 2009
[Genetic mutation databases: stakes and perspectives for orphan genetic diseases]V Humbertclaude, S Tuffery-Giraud, C Bareil, 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 3

Showing results (11-20 of 21) with videos related to

Sort By:
Pageof 3
Journal of Virology|July 1, 1997
Stability of AML1 (core) site enhancer mutations in T lymphomas induced by attenuated SL3-3 murine leukemia virus mutantsH W Amtoft, A B Sørensen, C Bareil, et al.
Annals of Neurology|August 17, 2001
Nonprogressive autosomal recessive ataxia maps to chromosome 9q34-9qter in a large consanguineous Lebanese familyV Delague, C Bareil, P Bouvagnet, et al.
Human Genetics|April 17, 1998
Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation testS Tuffery, S Chambert, C Bareil, et al.
Journal Francais D'Ophtalmologie|October 6, 1998
[Clinical features and genetic analysis in a family with X-linked incomplete congenital stationary night blindness (CSNBi)]C F Schmitt-Bernard, C Bareil, C P Hamel, et al.
American Journal of Human Genetics|June 10, 2000
Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate geneV Delague, C Bareil, S Tuffery, et al.
Human Molecular Genetics|February 7, 2001
A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth diseaseA Guilbot, A Williams, N Ravisé, et al.
Nature Genetics|November 5, 1997
Mutations in RPE65 cause Leber's congenital amaurosisF Marlhens, C Bareil, J M Griffoin, 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.
Pathologie-Biologie|December 4, 2009
[Genetic mutation databases: stakes and perspectives for orphan genetic diseases]V Humbertclaude, S Tuffery-Giraud, C Bareil, 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 3