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M Claustres

Showing results (41-50 of 143) with videos related to

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Human Mutation|January 1, 1996
A novel mutation (S558X) causing choroideremiaL Beaufrère, S Tuffery, C Hamel, et al.
Human Genetics|September 1, 1990
Cystic fibrosis typing with DNA probes and screening for delta F508 deletion in families from southern FranceM Claustres, M Desgeorges, P Kjellberg, et al.
Ophthalmology|August 31, 2000
Lattice corneal dystrophyC F Schmitt-Bernard, M Claustres, B Arnaud, et al.
British Journal of Haematology|July 1, 1997
Recurrent PIG-A mutation (IVS5+1G-->A) in a paediatric case of paroxysmal nocturnal haemoglobinuria: detection by the protein truncation testC Maugard, G Margueritte, S Tuffery, et al.
Human Mutation|January 1, 1992
Screening for cystic fibrosis mutations in southern France: identification of a frameshift mutation and two missense variationsM Claustres, B Gerrard, P Kjellberg, 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.
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.
Human Mutation|January 1, 1995
Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardationS Tuffery, U Lenk, R G Roberts, et al.
Journal of Medical Genetics|July 25, 1998
Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVDA de Meeus, C Guittard, M Desgeorges, 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.
Pageof 15

Showing results (41-50 of 143) with videos related to

Sort By:
Pageof 15
Human Mutation|January 1, 1996
A novel mutation (S558X) causing choroideremiaL Beaufrère, S Tuffery, C Hamel, et al.
Human Genetics|September 1, 1990
Cystic fibrosis typing with DNA probes and screening for delta F508 deletion in families from southern FranceM Claustres, M Desgeorges, P Kjellberg, et al.
Ophthalmology|August 31, 2000
Lattice corneal dystrophyC F Schmitt-Bernard, M Claustres, B Arnaud, et al.
British Journal of Haematology|July 1, 1997
Recurrent PIG-A mutation (IVS5+1G-->A) in a paediatric case of paroxysmal nocturnal haemoglobinuria: detection by the protein truncation testC Maugard, G Margueritte, S Tuffery, et al.
Human Mutation|January 1, 1992
Screening for cystic fibrosis mutations in southern France: identification of a frameshift mutation and two missense variationsM Claustres, B Gerrard, P Kjellberg, 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.
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.
Human Mutation|January 1, 1995
Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardationS Tuffery, U Lenk, R G Roberts, et al.
Journal of Medical Genetics|July 25, 1998
Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVDA de Meeus, C Guittard, M Desgeorges, 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.
Pageof 15