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Showing results (51-60 of 112) with videos related to

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Human Genetics|May 31, 2001
Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosaC Bareil, C P Hamel, V Delague, et al.
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.
Ophthalmic Genetics|October 16, 1999
Molecular analysis of the rhodopsin gene in southern France: identification of the first duplication responsible for retinitis pigmentosa, c.998999ins4C Bareil, C Hamel, N Pallarès-Ruiz, et al.
Human Mutation|January 1, 1995
Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardationS Tuffery, U Lenk, R G Roberts, et al.
Journal of Medical Genetics|July 25, 1998
Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVDA de Meeus, C Guittard, 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.
The EMBO Journal|January 1, 1982
The variable surface glycoproteins of Trypanosoma equiperdum are phosphorylatedT Baltz, C Giroud, D Baltz, et al.
Pageof 12

Showing results (51-60 of 112) with videos related to

Sort By:
Pageof 12
Human Genetics|May 31, 2001
Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosaC Bareil, C P Hamel, V Delague, et al.
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.
Ophthalmic Genetics|October 16, 1999
Molecular analysis of the rhodopsin gene in southern France: identification of the first duplication responsible for retinitis pigmentosa, c.998999ins4C Bareil, C Hamel, N Pallarès-Ruiz, et al.
Human Mutation|January 1, 1995
Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardationS Tuffery, U Lenk, R G Roberts, et al.
Journal of Medical Genetics|July 25, 1998
Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVDA de Meeus, C Guittard, 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.
The EMBO Journal|January 1, 1982
The variable surface glycoproteins of Trypanosoma equiperdum are phosphorylatedT Baltz, C Giroud, D Baltz, et al.
Pageof 12