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G C M Black

Showing results (1-10 of 21) with videos related to

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Clinical Genetics|March 27, 2014
Personalized ophthalmologyL F Porter, G C M Black
The British Journal of Ophthalmology|April 26, 2003
Chromosomal translocation in a family with ocular anomalies: indications for karyotype analysisR V Jamieson, L Gaunt, D Donnai, et al.
Journal of Medical Genetics|November 5, 2002
De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine modelsE Elson, R Perveen, D Donnai, et al.
The British Journal of Ophthalmology|October 24, 2006
Exclusion of COL8A1, the gene encoding the alpha2(VIII) chain of type VIII collagen, as a candidate for Fuchs endothelial dystrophy and posterior polymorphous corneal dystrophyJ E Urquhart, S Biswas, G C M Black, et al.
The British Journal of Ophthalmology|February 21, 2006
Corneal ectasia associated with Cohen syndrome: a role for COH1 in corneal development and maintenance?A Khan, K Chandler, D Pimenides, et al.
Human Molecular Genetics|March 22, 2007
A heterozygous c-Maf transactivation domain mutation causes congenital cataract and enhances target gene activationR Perveen, J Favor, R V Jamieson, et al.
The British Journal of Ophthalmology|March 19, 2003
Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation familyR V Jamieson, F Munier, A Balmer, et al.
Ophthalmic Genetics|December 29, 2004
Autosomal dominant brachydactyly, coloboma and anterior segment dysgenesisS M Quinn, G C M Black, S Biswas, et al.
The British Journal of Ophthalmology|August 19, 2006
Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosaB P Leroy, A Kailasanathan, J-J De Laey, et al.
The British Journal of Ophthalmology|November 26, 2002
The ophthalmic findings in Cohen syndromeK E Chandler, S Biswas, I C Lloyd, et al.
Pageof 3

Showing results (1-10 of 21) with videos related to

Sort By:
Pageof 3
Clinical Genetics|March 27, 2014
Personalized ophthalmologyL F Porter, G C M Black
The British Journal of Ophthalmology|April 26, 2003
Chromosomal translocation in a family with ocular anomalies: indications for karyotype analysisR V Jamieson, L Gaunt, D Donnai, et al.
Journal of Medical Genetics|November 5, 2002
De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine modelsE Elson, R Perveen, D Donnai, et al.
The British Journal of Ophthalmology|October 24, 2006
Exclusion of COL8A1, the gene encoding the alpha2(VIII) chain of type VIII collagen, as a candidate for Fuchs endothelial dystrophy and posterior polymorphous corneal dystrophyJ E Urquhart, S Biswas, G C M Black, et al.
The British Journal of Ophthalmology|February 21, 2006
Corneal ectasia associated with Cohen syndrome: a role for COH1 in corneal development and maintenance?A Khan, K Chandler, D Pimenides, et al.
Human Molecular Genetics|March 22, 2007
A heterozygous c-Maf transactivation domain mutation causes congenital cataract and enhances target gene activationR Perveen, J Favor, R V Jamieson, et al.
The British Journal of Ophthalmology|March 19, 2003
Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation familyR V Jamieson, F Munier, A Balmer, et al.
Ophthalmic Genetics|December 29, 2004
Autosomal dominant brachydactyly, coloboma and anterior segment dysgenesisS M Quinn, G C M Black, S Biswas, et al.
The British Journal of Ophthalmology|August 19, 2006
Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosaB P Leroy, A Kailasanathan, J-J De Laey, et al.
The British Journal of Ophthalmology|November 26, 2002
The ophthalmic findings in Cohen syndromeK E Chandler, S Biswas, I C Lloyd, et al.
Pageof 3