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C Bareil

Showing results (1-10 of 21) with videos related to

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Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|March 17, 2020
CFTR gene variants, epidemiology and molecular pathologyC Bareil, A Bergougnoux
European Journal of Human Genetics : EJHG|January 1, 1996
Four novel dystrophin point mutations: detection by protein truncation test and transcript analysis in lymphocytes from Duchenne muscular dystrophy patientsS Tuffery, C Bareil, J Demaille, et al.
Ophthalmic Genetics|November 15, 1997
A complex allele (1064delTC and IVS2 + 22ins7) in the peripherin/RDS gene in retinitis pigmentosa with macular dystrophyC Bareil, C Hamel, B Arnaud, et al.
Human Mutation|June 22, 2000
W179R: a novel missense mutation in the peripherin/RDS gene in a family with autosomal dominant retinitis pigmentosaC Bareil, V Delague, B Arnaud, et al.
Human Genetics|May 31, 2001
Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosaC Bareil, C P Hamel, V Delague, et al.
Ophthalmic Genetics|October 16, 1999
Molecular analysis of the rhodopsin gene in southern France: identification of the first duplication responsible for retinitis pigmentosa, c.998999ins4C Bareil, C Hamel, N Pallarès-Ruiz, et al.
Experimental Eye Research|January 27, 1998
The protein truncation test (PTT) as a method of detection for choroideremia mutationsL Beaufrère, S Tuffery, C Hamel, et al.
Genetic Counseling (Geneva, Switzerland)|January 1, 1997
An exonic polymorphism (381A/G) in the choroideremia geneL Beaufrere, S Tuffery, C Hamel, et al.
Journal Francais D'Ophtalmologie|January 1, 1997
[Rapid genetic diagnosis of females carriers related to patients with choroideremia]L Beaufrère, S Tuffery, C Hamel, et al.
European Journal of Human Genetics : EJHG|November 5, 1998
Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 geneF Marlhens, J M Griffoin, C Bareil, et al.
Pageof 3

Showing results (1-10 of 21) with videos related to

Sort By:
Pageof 3
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|March 17, 2020
CFTR gene variants, epidemiology and molecular pathologyC Bareil, A Bergougnoux
European Journal of Human Genetics : EJHG|January 1, 1996
Four novel dystrophin point mutations: detection by protein truncation test and transcript analysis in lymphocytes from Duchenne muscular dystrophy patientsS Tuffery, C Bareil, J Demaille, et al.
Ophthalmic Genetics|November 15, 1997
A complex allele (1064delTC and IVS2 + 22ins7) in the peripherin/RDS gene in retinitis pigmentosa with macular dystrophyC Bareil, C Hamel, B Arnaud, et al.
Human Mutation|June 22, 2000
W179R: a novel missense mutation in the peripherin/RDS gene in a family with autosomal dominant retinitis pigmentosaC Bareil, V Delague, B Arnaud, et al.
Human Genetics|May 31, 2001
Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosaC Bareil, C P Hamel, V Delague, et al.
Ophthalmic Genetics|October 16, 1999
Molecular analysis of the rhodopsin gene in southern France: identification of the first duplication responsible for retinitis pigmentosa, c.998999ins4C Bareil, C Hamel, N Pallarès-Ruiz, et al.
Experimental Eye Research|January 27, 1998
The protein truncation test (PTT) as a method of detection for choroideremia mutationsL Beaufrère, S Tuffery, C Hamel, et al.
Genetic Counseling (Geneva, Switzerland)|January 1, 1997
An exonic polymorphism (381A/G) in the choroideremia geneL Beaufrere, S Tuffery, C Hamel, et al.
Journal Francais D'Ophtalmologie|January 1, 1997
[Rapid genetic diagnosis of females carriers related to patients with choroideremia]L Beaufrère, S Tuffery, C Hamel, et al.
European Journal of Human Genetics : EJHG|November 5, 1998
Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 geneF Marlhens, J M Griffoin, C Bareil, et al.
Pageof 3