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European Journal of Human Genetics : EJHG
|
January 1, 1996
Four novel dystrophin point mutations: detection by protein truncation test and transcript analysis in lymphocytes from Duchenne muscular dystrophy patients
S Tuffery, C Bareil, J Demaille, et al.
Human Mutation
|
October 26, 1999
Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects
S Tuffery-Giraud, S Chambert, J Demaille, et al.
Annales De Biologie Clinique
|
August 5, 1999
[Genotypic diagnosis of Duchenne and Becker muscular dystrophies]
S Tuffery-Giraud, S Chambert, J Demaille, et al.
Neuromuscular Disorders : NMD
|
September 1, 1994
Expression and subcellular localization of dystrophin in skeletal, cardiac and smooth muscles during the human development
M P Chevron, F Girard, M Claustres, et al.
Journal Francais D'Ophtalmologie
|
October 6, 1998
[Update on a diagnostic test for choroideremia: the protein truncation test (PTT)]
L Beaufrere, A Girardet, B Arnaud, et al.
Human Genetics
|
December 1, 1992
Analysis of 30 known cystic fibrosis mutations: 10 mutations account for 27% of non-delta F508 chromosomes in southern France
M Claustres, M Desgeorges, P Kjellberg, et al.
Pathologie-Biologie
|
April 1, 1984
[Ferritin and breast cancer]
M Claustres, N Belaroussi, F Guilleux, et al.
Human Genetics
|
December 1, 1995
Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype
M Desgeorges, M Rodier, M Piot, et al.
Human Genetics
|
December 1, 1990
Germinal mosaicism from grand-paternal origin in a family with Duchenne muscular dystrophy
M Claustres, P Kjellberg, M Desgeorges, et al.
Human Genetics
|
September 1, 1996
CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France
M Claustres, M Desgeorges, P Moine, et al.
Page
of 15
Search research articles
Search
Showing results (21-30 of 143) with videos related to
Sort By:
Page
of 15
European Journal of Human Genetics : EJHG
|
January 1, 1996
Four novel dystrophin point mutations: detection by protein truncation test and transcript analysis in lymphocytes from Duchenne muscular dystrophy patients
S Tuffery, C Bareil, J Demaille, et al.
Human Mutation
|
October 26, 1999
Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects
S Tuffery-Giraud, S Chambert, J Demaille, et al.
Annales De Biologie Clinique
|
August 5, 1999
[Genotypic diagnosis of Duchenne and Becker muscular dystrophies]
S Tuffery-Giraud, S Chambert, J Demaille, et al.
Neuromuscular Disorders : NMD
|
September 1, 1994
Expression and subcellular localization of dystrophin in skeletal, cardiac and smooth muscles during the human development
M P Chevron, F Girard, M Claustres, et al.
Journal Francais D'Ophtalmologie
|
October 6, 1998
[Update on a diagnostic test for choroideremia: the protein truncation test (PTT)]
L Beaufrere, A Girardet, B Arnaud, et al.
Human Genetics
|
December 1, 1992
Analysis of 30 known cystic fibrosis mutations: 10 mutations account for 27% of non-delta F508 chromosomes in southern France
M Claustres, M Desgeorges, P Kjellberg, et al.
Pathologie-Biologie
|
April 1, 1984
[Ferritin and breast cancer]
M Claustres, N Belaroussi, F Guilleux, et al.
Human Genetics
|
December 1, 1995
Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype
M Desgeorges, M Rodier, M Piot, et al.
Human Genetics
|
December 1, 1990
Germinal mosaicism from grand-paternal origin in a family with Duchenne muscular dystrophy
M Claustres, P Kjellberg, M Desgeorges, et al.
Human Genetics
|
September 1, 1996
CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France
M Claustres, M Desgeorges, P Moine, et al.
Page
of 15