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Donna S Mackay

Showing results (1-10 of 34) with videos related to

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Experimental Eye Research|July 13, 2011
Focus on molecules: cytochrome P450 family 4, subfamily V, polypeptide 2 (CYP4V2)Donna S Mackay, Stephanie Halford
Plos One|July 11, 2015
Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle GlaucomaDonna S Mackay, Thomas M Bennett, Alan Shiels
Molecular Vision|March 26, 2004
A missense mutation in the gammaD crystallin gene (CRYGD) associated with autosomal dominant "coral-like" cataract linked to chromosome 2qDonna S Mackay, Usha P Andley, Alan Shiels
European Journal of Human Genetics : EJHG|September 27, 2003
Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21qDonna S Mackay, Usha P Andley, Alan Shiels
Investigative Ophthalmology & Visual Science|January 26, 2007
Refractive defects and cataracts in mice lacking lens intrinsic membrane protein-2Alan Shiels, Jennifer M King, Donna S Mackay, et al.
Human Genomics|November 19, 2014
Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataractDonna S Mackay, Thomas M Bennett, Susan M Culican, et al.
Plos One|August 5, 2014
Mutation of the melastatin-related cation channel, TRPM3, underlies inherited cataract and glaucomaThomas M Bennett, Donna S Mackay, Carla J Siegfried, et al.
Molecular Vision|June 23, 2004
A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant "nuclear punctate" cataracts linked to chromosome 13qThomas M Bennett, Donna S Mackay, Harry L S Knopf, et al.
Experimental Eye Research|May 25, 2010
Focus on molecules: centrosomal protein 290 (CEP290)Phillip Moradi, Wayne L Davies, Donna S Mackay, et al.
American Journal of Human Genetics|October 3, 2002
A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22qDonna S Mackay, Olivera B Boskovska, Harry L S Knopf, et al.
Pageof 4

Showing results (1-10 of 34) with videos related to

Sort By:
Pageof 4
Experimental Eye Research|July 13, 2011
Focus on molecules: cytochrome P450 family 4, subfamily V, polypeptide 2 (CYP4V2)Donna S Mackay, Stephanie Halford
Plos One|July 11, 2015
Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle GlaucomaDonna S Mackay, Thomas M Bennett, Alan Shiels
Molecular Vision|March 26, 2004
A missense mutation in the gammaD crystallin gene (CRYGD) associated with autosomal dominant "coral-like" cataract linked to chromosome 2qDonna S Mackay, Usha P Andley, Alan Shiels
European Journal of Human Genetics : EJHG|September 27, 2003
Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21qDonna S Mackay, Usha P Andley, Alan Shiels
Investigative Ophthalmology & Visual Science|January 26, 2007
Refractive defects and cataracts in mice lacking lens intrinsic membrane protein-2Alan Shiels, Jennifer M King, Donna S Mackay, et al.
Human Genomics|November 19, 2014
Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataractDonna S Mackay, Thomas M Bennett, Susan M Culican, et al.
Plos One|August 5, 2014
Mutation of the melastatin-related cation channel, TRPM3, underlies inherited cataract and glaucomaThomas M Bennett, Donna S Mackay, Carla J Siegfried, et al.
Molecular Vision|June 23, 2004
A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant "nuclear punctate" cataracts linked to chromosome 13qThomas M Bennett, Donna S Mackay, Harry L S Knopf, et al.
Experimental Eye Research|May 25, 2010
Focus on molecules: centrosomal protein 290 (CEP290)Phillip Moradi, Wayne L Davies, Donna S Mackay, et al.
American Journal of Human Genetics|October 3, 2002
A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22qDonna S Mackay, Olivera B Boskovska, Harry L S Knopf, et al.
Pageof 4