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Showing results (101-110 of 143) with videos related to

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Clinical Genetics|September 14, 2007
Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangementsA Girardet, C Guittard, J-P Altieri, 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.
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 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.
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.
Biochemical and Biophysical Research Communications|August 7, 2007
First functional polymorphism in CFTR promoter that results in decreased transcriptional activity and Sp1/USF bindingM Taulan, E Lopez, C Guittard, et al.
Human Mutation|January 1, 1997
SSCP analysis: a blind sensitivity trialA Jordanova, L Kalaydjieva, A Savov, et al.
Genetic Counseling (Geneva, Switzerland)|January 1, 1993
DNA analysis of haemophilia A families from southern France. Experience of a hospital laboratoryP Aguilar-Martinez, N Fabre, R Navarro, et al.
Journal of Magnetic Resonance Imaging : JMRI|October 31, 2008
Compliance and pulse wave velocity assessed by MRI detect early aortic impairment in young patients with mutation of the smooth muscle myosin heavy chainA Lalande, P Khau Van Kien, P M Walker, et al.
Human Genetics|January 28, 1999
Refinement of genetic localization of the Alström syndrome on chromosome 2p12-13 by linkage analysis in a North African familyF Macari, C Lautier, A Girardet, et al.
Pageof 15

Showing results (101-110 of 143) with videos related to

Sort By:
Pageof 15
Clinical Genetics|September 14, 2007
Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangementsA Girardet, C Guittard, J-P Altieri, 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.
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 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.
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.
Biochemical and Biophysical Research Communications|August 7, 2007
First functional polymorphism in CFTR promoter that results in decreased transcriptional activity and Sp1/USF bindingM Taulan, E Lopez, C Guittard, et al.
Human Mutation|January 1, 1997
SSCP analysis: a blind sensitivity trialA Jordanova, L Kalaydjieva, A Savov, et al.
Genetic Counseling (Geneva, Switzerland)|January 1, 1993
DNA analysis of haemophilia A families from southern France. Experience of a hospital laboratoryP Aguilar-Martinez, N Fabre, R Navarro, et al.
Journal of Magnetic Resonance Imaging : JMRI|October 31, 2008
Compliance and pulse wave velocity assessed by MRI detect early aortic impairment in young patients with mutation of the smooth muscle myosin heavy chainA Lalande, P Khau Van Kien, P M Walker, et al.
Human Genetics|January 28, 1999
Refinement of genetic localization of the Alström syndrome on chromosome 2p12-13 by linkage analysis in a North African familyF Macari, C Lautier, A Girardet, et al.
Pageof 15