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S Tuffery

Showing results (31-40 of 43) with videos related to

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Human Mutation|February 5, 1998
Protein truncation test: detection of severe haemophilia a mutation and analysis of factor VIII transcriptsC Maugard, S Tuffery, P Aguilar-Martinez, et al.
Neuro-Chirurgie|August 17, 1999
[Treatment of early-onset generalized dystonia by chronic bilateral stimulation of the internal globus pallidus. Apropos of a case]P Coubes, B Echenne, A Roubertie, et al.
Journal of Medical Genetics|October 5, 2001
No evidence of allelic heterogeneity in the DYT1 gene of European patients with early onset torsion dystoniaS Tuffery-Giraud, L Cavalier, A Roubertie, 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.
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.
Annales De Biologie Clinique|January 9, 2004
[RT-PCR in clinical diagnosis]H Cavé, C Acquaviva, I Bièche, et al.
Journal of Molecular and Cellular Cardiology|May 1, 1997
Lack of evidence for connexin 43 gene mutations in human autosomal recessive lateralization defectsS Debrus, S Tuffery, R Matsuoka, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|July 11, 2002
[Treatment of dystonia syndrome by chronic electric stimulation of the internal globus pallidus]P Coubes, L Cif, M Azais, 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.
Journal of Medical Genetics|August 10, 2010
The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 proteinC Rouzier, S Le Guédard-Méreuze, K Fragaki, et al.
Pageof 5

Showing results (31-40 of 43) with videos related to

Sort By:
Pageof 5
Human Mutation|February 5, 1998
Protein truncation test: detection of severe haemophilia a mutation and analysis of factor VIII transcriptsC Maugard, S Tuffery, P Aguilar-Martinez, et al.
Neuro-Chirurgie|August 17, 1999
[Treatment of early-onset generalized dystonia by chronic bilateral stimulation of the internal globus pallidus. Apropos of a case]P Coubes, B Echenne, A Roubertie, et al.
Journal of Medical Genetics|October 5, 2001
No evidence of allelic heterogeneity in the DYT1 gene of European patients with early onset torsion dystoniaS Tuffery-Giraud, L Cavalier, A Roubertie, 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.
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.
Annales De Biologie Clinique|January 9, 2004
[RT-PCR in clinical diagnosis]H Cavé, C Acquaviva, I Bièche, et al.
Journal of Molecular and Cellular Cardiology|May 1, 1997
Lack of evidence for connexin 43 gene mutations in human autosomal recessive lateralization defectsS Debrus, S Tuffery, R Matsuoka, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|July 11, 2002
[Treatment of dystonia syndrome by chronic electric stimulation of the internal globus pallidus]P Coubes, L Cif, M Azais, 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.
Journal of Medical Genetics|August 10, 2010
The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 proteinC Rouzier, S Le Guédard-Méreuze, K Fragaki, et al.
Pageof 5