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L Beaufrère

Showing results (1-10 of 8) with videos related to

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Ophthalmic Genetics|July 27, 1999
No missense mutation in choroideremia patients analyzed to dateL Beaufrère, M Claustres, S Tuffery
Human Mutation|January 1, 1996
A novel mutation (S558X) causing choroideremiaL Beaufrère, S Tuffery, C Hamel, et al.
Current Eye Research|July 25, 1998
Altered rep-1 expression due to substitution at position +3 of the IVS13 splice-donor site of the choroideremia (CHM) geneL Beaufrère, S Rieu, J C Hache, et al.
Genetic Counseling (Geneva, Switzerland)|January 23, 1999
Length variations of the poly(T) tract at the exon 3 splice acceptor site of the choroideremia geneL Beaufrère, S Rieu, J C Hache, 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.
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.
European Journal of Human Genetics : EJHG|April 10, 1999
Direct estimation of the recombination frequency between the RB1 gene and two closely linked microsatellites using sperm typingA Girardet, S Lien, E P Leeflang, 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.
Pageof 1

Showing results (1-10 of 8) with videos related to

Sort By:
Pageof 1
Ophthalmic Genetics|July 27, 1999
No missense mutation in choroideremia patients analyzed to dateL Beaufrère, M Claustres, S Tuffery
Human Mutation|January 1, 1996
A novel mutation (S558X) causing choroideremiaL Beaufrère, S Tuffery, C Hamel, et al.
Current Eye Research|July 25, 1998
Altered rep-1 expression due to substitution at position +3 of the IVS13 splice-donor site of the choroideremia (CHM) geneL Beaufrère, S Rieu, J C Hache, et al.
Genetic Counseling (Geneva, Switzerland)|January 23, 1999
Length variations of the poly(T) tract at the exon 3 splice acceptor site of the choroideremia geneL Beaufrère, S Rieu, J C Hache, 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.
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.
European Journal of Human Genetics : EJHG|April 10, 1999
Direct estimation of the recombination frequency between the RB1 gene and two closely linked microsatellites using sperm typingA Girardet, S Lien, E P Leeflang, 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.
Pageof 1