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

Val C Sheffield

Showing results (101-110 of 193) with videos related to

Pageof 20
Sort By:
Ophthalmic Genetics|March 26, 2008
Mutation in the SLC4A11 gene associated with autosomal recessive congenital hereditary endothelial dystrophy in a large Saudi familyShaival S Shah, Ali Al-Rajhi, James D Brandt, et al.
Nature Communications|November 6, 2020
ATF4 leads to glaucoma by promoting protein synthesis and ER client protein loadRamesh B Kasetti, Pinkal D Patel, Prabhavathi Maddineni, et al.
American Journal of Human Genetics|July 20, 2004
Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)Annie P Chiang, Darryl Nishimura, Charles Searby, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 10, 2011
Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosaBudd A Tucker, Todd E Scheetz, Robert F Mullins, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|May 14, 2005
Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility geneThomas H Wassink, Joseph Piven, Veronica J Vieland, et al.
Plos Genetics|October 12, 2012
Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degenerationVinit B Mahajan, Jessica M Skeie, Alexander G Bassuk, et al.
Nature Genetics|May 29, 2002
Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemiaRoxanne Y Walder, Daniel Landau, Peter Meyer, et al.
Ophthalmic Genetics|April 25, 2007
Mitochondrial variant G4132A is associated with familial non-arteritic anterior ischemic optic neuropathy in one large pedigreeJohn H Fingert, Michael A Grassi, Josesph C Janutka, et al.
American Journal of Ophthalmology|March 5, 2003
A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 geneRobert A Honkanen, Darryl Y Nishimura, Ruth E Swiderski, et al.
Journal of Cell Science|January 23, 2019
BBS4 is required for intraflagellar transport coordination and basal body number in mammalian olfactory ciliaCedric R Uytingco, Corey L Williams, Chao Xie, et al.
Pageof 20

Showing results (101-110 of 193) with videos related to

Sort By:
Pageof 20
Ophthalmic Genetics|March 26, 2008
Mutation in the SLC4A11 gene associated with autosomal recessive congenital hereditary endothelial dystrophy in a large Saudi familyShaival S Shah, Ali Al-Rajhi, James D Brandt, et al.
Nature Communications|November 6, 2020
ATF4 leads to glaucoma by promoting protein synthesis and ER client protein loadRamesh B Kasetti, Pinkal D Patel, Prabhavathi Maddineni, et al.
American Journal of Human Genetics|July 20, 2004
Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)Annie P Chiang, Darryl Nishimura, Charles Searby, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 10, 2011
Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosaBudd A Tucker, Todd E Scheetz, Robert F Mullins, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|May 14, 2005
Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility geneThomas H Wassink, Joseph Piven, Veronica J Vieland, et al.
Plos Genetics|October 12, 2012
Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degenerationVinit B Mahajan, Jessica M Skeie, Alexander G Bassuk, et al.
Nature Genetics|May 29, 2002
Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemiaRoxanne Y Walder, Daniel Landau, Peter Meyer, et al.
Ophthalmic Genetics|April 25, 2007
Mitochondrial variant G4132A is associated with familial non-arteritic anterior ischemic optic neuropathy in one large pedigreeJohn H Fingert, Michael A Grassi, Josesph C Janutka, et al.
American Journal of Ophthalmology|March 5, 2003
A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 geneRobert A Honkanen, Darryl Y Nishimura, Ruth E Swiderski, et al.
Journal of Cell Science|January 23, 2019
BBS4 is required for intraflagellar transport coordination and basal body number in mammalian olfactory ciliaCedric R Uytingco, Corey L Williams, Chao Xie, et al.
Pageof 20