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S Tuffery

Showing results (11-20 of 43) with videos related to

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Neuromuscular Disorders : NMD|January 1, 1992
Becker muscular dystrophy: demonstration of the carrier status of a female by immunoblotting and immunostainingM P Chevron, S Tuffery, B Echenne, et al.
Human Mutation|February 6, 1998
Mutation in the 5' noncoding region of the SRY gene in an XY sex-reversed patientF Poulat, M Desclozeaux, S Tuffery, et al.
Journal of Assisted Reproduction and Genetics|March 1, 1997
Amplification of the RB1.20 polymorphism in single spermatozoaA Girardet, F Pellestor, S Tuffery, et al.
Human Mutation|January 1, 1996
A novel mutation (S558X) causing choroideremiaL Beaufrère, S Tuffery, C Hamel, 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.
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.
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.
Human Genetics|September 1, 1996
Transcript analysis of CFTR frameshift mutations in lymphocytes using the reverse transcription-polymerase chain reaction technique and the protein truncation testM C Romey, S Tuffery, M Desgeorges, 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.
Muscle & Nerve|September 15, 1998
Mosaic expression of two dystrophins in a boy with progressive muscular dystrophyF Rivier, S Tuffery, A J Jellali, et al.
Pageof 5

Showing results (11-20 of 43) with videos related to

Sort By:
Pageof 5
Neuromuscular Disorders : NMD|January 1, 1992
Becker muscular dystrophy: demonstration of the carrier status of a female by immunoblotting and immunostainingM P Chevron, S Tuffery, B Echenne, et al.
Human Mutation|February 6, 1998
Mutation in the 5' noncoding region of the SRY gene in an XY sex-reversed patientF Poulat, M Desclozeaux, S Tuffery, et al.
Journal of Assisted Reproduction and Genetics|March 1, 1997
Amplification of the RB1.20 polymorphism in single spermatozoaA Girardet, F Pellestor, S Tuffery, et al.
Human Mutation|January 1, 1996
A novel mutation (S558X) causing choroideremiaL Beaufrère, S Tuffery, C Hamel, 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.
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.
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.
Human Genetics|September 1, 1996
Transcript analysis of CFTR frameshift mutations in lymphocytes using the reverse transcription-polymerase chain reaction technique and the protein truncation testM C Romey, S Tuffery, M Desgeorges, 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.
Muscle & Nerve|September 15, 1998
Mosaic expression of two dystrophins in a boy with progressive muscular dystrophyF Rivier, S Tuffery, A J Jellali, et al.
Pageof 5