Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

D Ebenezer

Showing results (51-60 of 61) with videos related to

Pageof 7
Sort By:
Molecular Cell|September 8, 2001
A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)E N Vithana, L Abu-Safieh, M J Allen, et al.
Human Mutation|April 18, 2007
Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophyPetra Liskova, Stephen J Tuft, Rhian Gwilliam, et al.
Investigative Ophthalmology & Visual Science|January 31, 2002
Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophyMohamed F El-Ashry, Mai M Abd El-Aziz, Simon Wilkins, et al.
Human Genetics|January 26, 2002
A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 geneTin Aung, Louise Ocaka, Neil D Ebenezer, et al.
Investigative Ophthalmology & Visual Science|May 31, 2002
Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletionsOrdan J Lehmann, Neil D Ebenezer, Rosemary Ekong, et al.
Human Mutation|April 3, 2007
Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. OnlineVedam L Ramprasad, Neil D Ebenezer, Tin Aung, et al.
Investigative Ophthalmology & Visual Science|May 26, 2005
Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) familiesNeil D Ebenezer, Michel Michaelides, Sharon A Jenkins, et al.
American Journal of Human Genetics|June 29, 2010
X-linked cone dystrophy caused by mutation of the red and green cone opsinsJessica C Gardner, Tom R Webb, Naheed Kanuga, et al.
Advances in Experimental Medicine and Biology|December 21, 2011
A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5)Jessica C Gardner, Tom R Webb, Naheed Kanuga, et al.
Nature Genetics|June 13, 2006
Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)Eranga N Vithana, Patricio Morgan, Periasamy Sundaresan, et al.
Pageof 7

Showing results (51-60 of 61) with videos related to

Sort By:
Pageof 7
Molecular Cell|September 8, 2001
A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)E N Vithana, L Abu-Safieh, M J Allen, et al.
Human Mutation|April 18, 2007
Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophyPetra Liskova, Stephen J Tuft, Rhian Gwilliam, et al.
Investigative Ophthalmology & Visual Science|January 31, 2002
Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophyMohamed F El-Ashry, Mai M Abd El-Aziz, Simon Wilkins, et al.
Human Genetics|January 26, 2002
A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 geneTin Aung, Louise Ocaka, Neil D Ebenezer, et al.
Investigative Ophthalmology & Visual Science|May 31, 2002
Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletionsOrdan J Lehmann, Neil D Ebenezer, Rosemary Ekong, et al.
Human Mutation|April 3, 2007
Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. OnlineVedam L Ramprasad, Neil D Ebenezer, Tin Aung, et al.
Investigative Ophthalmology & Visual Science|May 26, 2005
Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) familiesNeil D Ebenezer, Michel Michaelides, Sharon A Jenkins, et al.
American Journal of Human Genetics|June 29, 2010
X-linked cone dystrophy caused by mutation of the red and green cone opsinsJessica C Gardner, Tom R Webb, Naheed Kanuga, et al.
Advances in Experimental Medicine and Biology|December 21, 2011
A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5)Jessica C Gardner, Tom R Webb, Naheed Kanuga, et al.
Nature Genetics|June 13, 2006
Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)Eranga N Vithana, Patricio Morgan, Periasamy Sundaresan, et al.
Pageof 7