D F Roberts|S S Papiha|S S Bhattacharya - JoVE Visualize

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Human Molecular Genetics|May 1, 1996

Gene transfer into the mouse retina mediated by an adeno-associated viral vectorR R Ali, M B Reichel, A J Thrasher, et al.

Human Molecular Genetics|March 21, 1998

A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1A M Payne, S M Downes, D A Bessant, et al.

Genome Research|November 1, 1996

Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mappingD L Thiselton, R M Hampson, M Nayudu, et al.

Human Genetics|December 1, 1991

Identification of a mutation in the promoter region of the dystrophin gene in a patient with atypical Becker muscular dystrophyK M Bushby, N J Cleghorn, A Curtis, et al.

American Journal of Human Genetics|October 1, 1987

Linkage relationships between X-linked retinitis pigmentosa and nine short-arm markers: exclusion of the disease locus from Xp21 and localization to between DXS7 and DXS14A F Wright, S S Bhattacharya, J F Clayton, et al.

Human Molecular Genetics|January 4, 2001

The destabilization of human GCAP1 by a proline to leucine mutation might cause cone-rod dystrophyR J Newbold, E C Deery, C E Walker, et al.

Human Molecular Genetics|July 1, 1996

The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16C Y Gregory, K Evans, S D Wijesuriya, et al.

Eye (London, England)|June 27, 2015

Diverse clinical phenotypes associated with a nonsense mutation in FAM161AA M Rose, P Sergouniotis, G Alfano, et al.

Clinical Genetics|April 19, 2003

The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UKD C Blaydon, R F Mueller, T P Hutchin, et al.

The British Journal of Ophthalmology|May 1, 1994

Ocular manifestations in autosomal dominant retinitis pigmentosa with a Lys-296-Glu rhodopsin mutation at the retinal binding siteS L Owens, F W Fitzke, C F Inglehearn, et al.

Pageof 37

Showing results (311-320 of 365) with videos related to

Sort By:

Pageof 37

Human Molecular Genetics|May 1, 1996

Gene transfer into the mouse retina mediated by an adeno-associated viral vectorR R Ali, M B Reichel, A J Thrasher, et al.

Human Molecular Genetics|March 21, 1998

A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1A M Payne, S M Downes, D A Bessant, et al.

Genome Research|November 1, 1996

Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mappingD L Thiselton, R M Hampson, M Nayudu, et al.

Human Genetics|December 1, 1991

Identification of a mutation in the promoter region of the dystrophin gene in a patient with atypical Becker muscular dystrophyK M Bushby, N J Cleghorn, A Curtis, et al.

American Journal of Human Genetics|October 1, 1987

Linkage relationships between X-linked retinitis pigmentosa and nine short-arm markers: exclusion of the disease locus from Xp21 and localization to between DXS7 and DXS14A F Wright, S S Bhattacharya, J F Clayton, et al.

Human Molecular Genetics|January 4, 2001

The destabilization of human GCAP1 by a proline to leucine mutation might cause cone-rod dystrophyR J Newbold, E C Deery, C E Walker, et al.

Human Molecular Genetics|July 1, 1996

The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16C Y Gregory, K Evans, S D Wijesuriya, et al.

Eye (London, England)|June 27, 2015

Diverse clinical phenotypes associated with a nonsense mutation in FAM161AA M Rose, P Sergouniotis, G Alfano, et al.

Clinical Genetics|April 19, 2003

The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UKD C Blaydon, R F Mueller, T P Hutchin, et al.

The British Journal of Ophthalmology|May 1, 1994

Ocular manifestations in autosomal dominant retinitis pigmentosa with a Lys-296-Glu rhodopsin mutation at the retinal binding siteS L Owens, F W Fitzke, C F Inglehearn, et al.

Pageof 37