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M Claustres

Showing results (51-60 of 143) with videos related to

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Journal of Medical Genetics|April 16, 1999
First putative sequence alterations in the minimal CFTR promoter regionM C Romey, C Guittard, S Carles, et al.
Human Genetics|September 1, 1996
Transcript analysis of CFTR frameshift mutations in lymphocytes using the reverse transcription-polymerase chain reaction technique and the protein truncation testM C Romey, S Tuffery, M Desgeorges, et al.
Human Mutation|April 13, 1999
Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutatations. Mutations in brief no. 138. OnlineA de Meeus, C Guittard, M Desgeorges, et al.
Human Molecular Genetics|April 1, 1994
Homozygosity for a novel missense mutation (I175V) in exon 5 of the CFTR gene in a family of Armenian descentM C Romey, M Desgeorges, P Malzac, et al.
Human Mutation|January 1, 1995
Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adultM C Romey, M Desgeorges, P Ray, et al.
Current Eye Research|July 25, 1998
Altered rep-1 expression due to substitution at position +3 of the IVS13 splice-donor site of the choroideremia (CHM) geneL Beaufrère, S Rieu, J C Hache, et al.
Clinical Genetics|February 13, 2001
The molecular basis of cystic fibrosis in South AfricaA Goldman, R Labrum, M Claustres, et al.
Human Molecular Genetics|February 1, 1994
A novel splice site mutation in the first exon of the cystic fibrosis transmembrane regulator (CFTR) gene identified in a CBAVD patientJ F Culard, M Desgeorges, M C Romey, et al.
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.
Journal De Genetique Humaine|September 1, 1989
[Detection of deletions by the amplification of exons (multiplex PCR) in Duchenne muscular dystrophy]M Claustres, P Kjellberg, M Desgeorges, et al.
Pageof 15

Showing results (51-60 of 143) with videos related to

Sort By:
Pageof 15
Journal of Medical Genetics|April 16, 1999
First putative sequence alterations in the minimal CFTR promoter regionM C Romey, C Guittard, S Carles, et al.
Human Genetics|September 1, 1996
Transcript analysis of CFTR frameshift mutations in lymphocytes using the reverse transcription-polymerase chain reaction technique and the protein truncation testM C Romey, S Tuffery, M Desgeorges, et al.
Human Mutation|April 13, 1999
Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutatations. Mutations in brief no. 138. OnlineA de Meeus, C Guittard, M Desgeorges, et al.
Human Molecular Genetics|April 1, 1994
Homozygosity for a novel missense mutation (I175V) in exon 5 of the CFTR gene in a family of Armenian descentM C Romey, M Desgeorges, P Malzac, et al.
Human Mutation|January 1, 1995
Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adultM C Romey, M Desgeorges, P Ray, et al.
Current Eye Research|July 25, 1998
Altered rep-1 expression due to substitution at position +3 of the IVS13 splice-donor site of the choroideremia (CHM) geneL Beaufrère, S Rieu, J C Hache, et al.
Clinical Genetics|February 13, 2001
The molecular basis of cystic fibrosis in South AfricaA Goldman, R Labrum, M Claustres, et al.
Human Molecular Genetics|February 1, 1994
A novel splice site mutation in the first exon of the cystic fibrosis transmembrane regulator (CFTR) gene identified in a CBAVD patientJ F Culard, M Desgeorges, M C Romey, et al.
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.
Journal De Genetique Humaine|September 1, 1989
[Detection of deletions by the amplification of exons (multiplex PCR) in Duchenne muscular dystrophy]M Claustres, P Kjellberg, M Desgeorges, et al.
Pageof 15