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Human Genetics
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December 1, 1991
Molecular deletion patterns in families from southern France with Duchenne/Becker muscular dystrophies
M Claustres, S Tuffery, M P Chevron, et al.
Human Genetics
|
February 1, 1994
394delTT: a Nordic cystic fibrosis mutation
M Schwartz, M Anvret, M Claustres, et al.
Human Mutation
|
February 5, 1998
Protein truncation test: detection of severe haemophilia a mutation and analysis of factor VIII transcripts
C Maugard, S Tuffery, P Aguilar-Martinez, et al.
Clinical Genetics
|
April 26, 2014
Preimplantation genetic diagnosis for cystic fibrosis: the Montpellier center's 10-year experience
A Girardet, A Ishmukhametova, M Willems, et al.
Investigative Ophthalmology & Visual Science
|
May 8, 2000
BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies
C F Schmitt-Bernard, C Guittard, B Arnaud, et al.
Annals of Hematology
|
May 1, 1993
Comparison of the protein and DNA approaches for the characterization of a beta-globin chain variant, hemoglobin Cocody [beta 21 (B3) Asp--->Asn], in a Caucasian patient
P Aguilar-Martinez, F Galacteros, J F Schved, et al.
Genetic Counseling (Geneva, Switzerland)
|
January 1, 1995
Direct carrier detection for severe haemophilia A: application to families with no available affected male
C Maugard, P Aguilar-Martinez, J F Schved, et al.
Genetic Testing
|
April 19, 2002
Evaluation of dHPLC for CX26 mutation screening in patients from southern France with sensorineural deafness
N Pallares-Ruiz, P Blanchet, M Mondain, et al.
Human Genetics
|
April 1, 1994
Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens
J F Culard, M Desgeorges, P Costa, et al.
Journal Francais D'Ophtalmologie
|
October 6, 1998
[Clinical features and genetic analysis in a family with X-linked incomplete congenital stationary night blindness (CSNBi)]
C F Schmitt-Bernard, C Bareil, C P Hamel, et al.
Page
of 15
Search research articles
Search
Showing results (91-100 of 143) with videos related to
Sort By:
Page
of 15
Human Genetics
|
December 1, 1991
Molecular deletion patterns in families from southern France with Duchenne/Becker muscular dystrophies
M Claustres, S Tuffery, M P Chevron, et al.
Human Genetics
|
February 1, 1994
394delTT: a Nordic cystic fibrosis mutation
M Schwartz, M Anvret, M Claustres, et al.
Human Mutation
|
February 5, 1998
Protein truncation test: detection of severe haemophilia a mutation and analysis of factor VIII transcripts
C Maugard, S Tuffery, P Aguilar-Martinez, et al.
Clinical Genetics
|
April 26, 2014
Preimplantation genetic diagnosis for cystic fibrosis: the Montpellier center's 10-year experience
A Girardet, A Ishmukhametova, M Willems, et al.
Investigative Ophthalmology & Visual Science
|
May 8, 2000
BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies
C F Schmitt-Bernard, C Guittard, B Arnaud, et al.
Annals of Hematology
|
May 1, 1993
Comparison of the protein and DNA approaches for the characterization of a beta-globin chain variant, hemoglobin Cocody [beta 21 (B3) Asp--->Asn], in a Caucasian patient
P Aguilar-Martinez, F Galacteros, J F Schved, et al.
Genetic Counseling (Geneva, Switzerland)
|
January 1, 1995
Direct carrier detection for severe haemophilia A: application to families with no available affected male
C Maugard, P Aguilar-Martinez, J F Schved, et al.
Genetic Testing
|
April 19, 2002
Evaluation of dHPLC for CX26 mutation screening in patients from southern France with sensorineural deafness
N Pallares-Ruiz, P Blanchet, M Mondain, et al.
Human Genetics
|
April 1, 1994
Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens
J F Culard, M Desgeorges, P Costa, et al.
Journal Francais D'Ophtalmologie
|
October 6, 1998
[Clinical features and genetic analysis in a family with X-linked incomplete congenital stationary night blindness (CSNBi)]
C F Schmitt-Bernard, C Bareil, C P Hamel, et al.
Page
of 15