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Human Genetics
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August 1, 1997
Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities
M Desgeorges, A Mégarbané, C Guittard, et al.
Genetic Counseling (Geneva, Switzerland)
|
January 1, 1997
An exonic polymorphism (381A/G) in the choroideremia gene
L Beaufrere, S Tuffery, C Hamel, et al.
Human Reproduction (Oxford, England)
|
April 23, 2005
Sperm segregation analysis of a (13;22) Robertsonian translocation carrier by FISH: a comparison of locus-specific probe and whole chromosome painting
T Anahory, S Hamamah, B Andréo, et al.
Genetic Counseling (Geneva, Switzerland)
|
January 1, 1994
Molecular diagnosis of Duchenne muscular dystrophy by use of a conformational polymorphism in the absence of DNA from an affected boy
S Tuffery, P Moine, P Sarda, et al.
Human Molecular Genetics
|
June 1, 1994
Two novel rare frameshift mutations (2423 del G in exon 13 and 1215 del G in exon 7) and one novel rare sequence variation (3271 + 18 C or T) identified in a patient with cystic fibrosis
M C Romey, M Desgeorges, M Laussel, et al.
Prenatal Diagnosis
|
February 1, 1993
Prenatal diagnosis for cystic fibrosis using SSCP analysis
M Desgeorges, P Boulot, P Kjellberg, et al.
Journal Francais D'Ophtalmologie
|
January 1, 1997
[Rapid genetic diagnosis of females carriers related to patients with choroideremia]
L Beaufrère, S Tuffery, C Hamel, et al.
Human Molecular Genetics
|
February 8, 2006
An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements
A Disset, C F Bourgeois, N Benmalek, et al.
European Journal of Human Genetics : EJHG
|
November 5, 1998
Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene
F Marlhens, J M Griffoin, C Bareil, 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 France
M Claustres, M Laussel, M Desgeorges, et al.
Page
of 15
Search research articles
Search
Showing results (61-70 of 143) with videos related to
Sort By:
Page
of 15
Human Genetics
|
August 1, 1997
Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities
M Desgeorges, A Mégarbané, C Guittard, et al.
Genetic Counseling (Geneva, Switzerland)
|
January 1, 1997
An exonic polymorphism (381A/G) in the choroideremia gene
L Beaufrere, S Tuffery, C Hamel, et al.
Human Reproduction (Oxford, England)
|
April 23, 2005
Sperm segregation analysis of a (13;22) Robertsonian translocation carrier by FISH: a comparison of locus-specific probe and whole chromosome painting
T Anahory, S Hamamah, B Andréo, et al.
Genetic Counseling (Geneva, Switzerland)
|
January 1, 1994
Molecular diagnosis of Duchenne muscular dystrophy by use of a conformational polymorphism in the absence of DNA from an affected boy
S Tuffery, P Moine, P Sarda, et al.
Human Molecular Genetics
|
June 1, 1994
Two novel rare frameshift mutations (2423 del G in exon 13 and 1215 del G in exon 7) and one novel rare sequence variation (3271 + 18 C or T) identified in a patient with cystic fibrosis
M C Romey, M Desgeorges, M Laussel, et al.
Prenatal Diagnosis
|
February 1, 1993
Prenatal diagnosis for cystic fibrosis using SSCP analysis
M Desgeorges, P Boulot, P Kjellberg, et al.
Journal Francais D'Ophtalmologie
|
January 1, 1997
[Rapid genetic diagnosis of females carriers related to patients with choroideremia]
L Beaufrère, S Tuffery, C Hamel, et al.
Human Molecular Genetics
|
February 8, 2006
An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements
A Disset, C F Bourgeois, N Benmalek, et al.
European Journal of Human Genetics : EJHG
|
November 5, 1998
Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene
F Marlhens, J M Griffoin, C Bareil, 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 France
M Claustres, M Laussel, M Desgeorges, et al.
Page
of 15