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Showing results (71-80 of 112) with videos related to

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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.
Prenatal Diagnosis|November 1, 1992
Potential co-existence of haemophilia A and B carrier status in two sistersP Aguilar-Martinez, R Navarro, J F Schved, et al.
Journal of Medical Genetics|May 19, 2001
Cytogenetic and molecular study of a jumping translocation in a baby with Dandy-Walker malformationG Lefort, P Blanchet, A M Chaze, et al.
Human Molecular Genetics|August 1, 1993
Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern FranceM Claustres, M Laussel, M Desgeorges, et al.
The New England Journal of Medicine|February 11, 1993
High frequency of the R117H cystic fibrosis mutation in patients with congenital absence of the vas deferensR Gervais, V Dumur, J M Rigot, et al.
Clinical and Laboratory Haematology|March 1, 1994
Direct carrier testing of haemophilia B by SSCPP A Martinez, M C Romey, J F Schved, et al.
Human Genetics|April 17, 1998
Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation testS Tuffery, S Chambert, C Bareil, et al.
Molecular Human Reproduction|February 6, 2003
First preimplantation genetic diagnosis of hereditary retinoblastoma using informative microsatellite markersA Girardet, S Hamamah, T Anahory, et al.
The Journal of Biological Chemistry|February 1, 2000
A naturally occurring sequence variation that creates a YY1 element is associated with increased cystic fibrosis transmembrane conductance regulator gene expressionM C Romey, N Pallares-Ruiz, A Mange, et al.
Arthritis and Rheumatism|February 24, 2001
The MICA region determines the first modifier locus in familial Mediterranean feverI Touitou, M C Picot, C Domingo, et al.
Pageof 12

Showing results (71-80 of 112) with videos related to

Sort By:
Pageof 12
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.
Prenatal Diagnosis|November 1, 1992
Potential co-existence of haemophilia A and B carrier status in two sistersP Aguilar-Martinez, R Navarro, J F Schved, et al.
Journal of Medical Genetics|May 19, 2001
Cytogenetic and molecular study of a jumping translocation in a baby with Dandy-Walker malformationG Lefort, P Blanchet, A M Chaze, et al.
Human Molecular Genetics|August 1, 1993
Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern FranceM Claustres, M Laussel, M Desgeorges, et al.
The New England Journal of Medicine|February 11, 1993
High frequency of the R117H cystic fibrosis mutation in patients with congenital absence of the vas deferensR Gervais, V Dumur, J M Rigot, et al.
Clinical and Laboratory Haematology|March 1, 1994
Direct carrier testing of haemophilia B by SSCPP A Martinez, M C Romey, J F Schved, et al.
Human Genetics|April 17, 1998
Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation testS Tuffery, S Chambert, C Bareil, et al.
Molecular Human Reproduction|February 6, 2003
First preimplantation genetic diagnosis of hereditary retinoblastoma using informative microsatellite markersA Girardet, S Hamamah, T Anahory, et al.
The Journal of Biological Chemistry|February 1, 2000
A naturally occurring sequence variation that creates a YY1 element is associated with increased cystic fibrosis transmembrane conductance regulator gene expressionM C Romey, N Pallares-Ruiz, A Mange, et al.
Arthritis and Rheumatism|February 24, 2001
The MICA region determines the first modifier locus in familial Mediterranean feverI Touitou, M C Picot, C Domingo, et al.
Pageof 12