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Jonathan B Ruddle

Showing results (51-60 of 79) with videos related to

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American Journal of Human Genetics|February 18, 2010
Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathyJames A Poulter, Manir Ali, David F Gilmour, et al.
American Journal of Human Genetics|September 2, 2017
Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative VitreoretinopathyJames A Poulter, Manir Ali, David F Gilmour, et al.
Clinical Genitourinary Cancer|June 10, 2022
Phase 2 Study of Neoadjuvant FGFR Inhibition and Androgen Deprivation Therapy Prior to ProstatectomyElizabeth Liow, Nicholas Howard, Chol-Hee Jung, et al.
Investigative Ophthalmology & Visual Science|August 25, 2011
Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosaManir Ali, Paul M Hocking, Martin McKibbin, et al.
Investigative Ophthalmology & Visual Science|March 11, 2017
Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle GlaucomaTiger Zhou, Emmanuelle Souzeau, Owen M Siggs, et al.
JAMA Ophthalmology|May 8, 2015
Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field LossEmmanuelle Souzeau, Melanie Hayes, Tiger Zhou, et al.
Plos One|March 7, 2017
Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucomaTiger Zhou, Emmanuelle Souzeau, Shiwani Sharma, et al.
Human Mutation|August 30, 2014
Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variantsJessica C Gardner, Gerald Liew, Ying-Hua Quan, et al.
American Journal of Human Genetics|December 24, 2022
Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?David A Mackey, Jue-Sheng Ong, Stuart MacGregor, et al.
Ophthalmology|February 23, 2020
Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle GlaucomaOwen M Siggs, Emmanuelle Souzeau, Deepa A Taranath, et al.
Pageof 8

Showing results (51-60 of 79) with videos related to

Sort By:
Pageof 8
American Journal of Human Genetics|February 18, 2010
Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathyJames A Poulter, Manir Ali, David F Gilmour, et al.
American Journal of Human Genetics|September 2, 2017
Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative VitreoretinopathyJames A Poulter, Manir Ali, David F Gilmour, et al.
Clinical Genitourinary Cancer|June 10, 2022
Phase 2 Study of Neoadjuvant FGFR Inhibition and Androgen Deprivation Therapy Prior to ProstatectomyElizabeth Liow, Nicholas Howard, Chol-Hee Jung, et al.
Investigative Ophthalmology & Visual Science|August 25, 2011
Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosaManir Ali, Paul M Hocking, Martin McKibbin, et al.
Investigative Ophthalmology & Visual Science|March 11, 2017
Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle GlaucomaTiger Zhou, Emmanuelle Souzeau, Owen M Siggs, et al.
JAMA Ophthalmology|May 8, 2015
Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field LossEmmanuelle Souzeau, Melanie Hayes, Tiger Zhou, et al.
Plos One|March 7, 2017
Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucomaTiger Zhou, Emmanuelle Souzeau, Shiwani Sharma, et al.
Human Mutation|August 30, 2014
Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variantsJessica C Gardner, Gerald Liew, Ying-Hua Quan, et al.
American Journal of Human Genetics|December 24, 2022
Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?David A Mackey, Jue-Sheng Ong, Stuart MacGregor, et al.
Ophthalmology|February 23, 2020
Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle GlaucomaOwen M Siggs, Emmanuelle Souzeau, Deepa A Taranath, et al.
Pageof 8