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Val C Sheffield

Showing results (71-80 of 193) with videos related to

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American Journal of Ophthalmology|November 27, 2007
LOXL1 mutations are associated with exfoliation syndrome in patients from the midwestern United StatesJohn H Fingert, Wallace L M Alward, Young H Kwon, et al.
Human Molecular Genetics|January 25, 2011
The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindnessLisa M Baye, Xiaobai Patrinostro, Svetha Swaminathan, et al.
The Journal of Clinical Investigation|April 3, 2014
Ocular-specific ER stress reduction rescues glaucoma in murine glucocorticoid-induced glaucomaGulab S Zode, Arti B Sharma, Xiaolei Lin, et al.
Gene Therapy|March 5, 2021
Ectopic expression of BBS1 rescues male infertility, but not retinal degeneration, in a BBS1 mouse modelMatthew R Cring, Kacie J Meyer, Charles C Searby, et al.
Human Molecular Genetics|August 15, 2013
BBS mutations modify phenotypic expression of CEP290-related ciliopathiesYan Zhang, Seongjin Seo, Sajag Bhattarai, et al.
Medical Research Archives|February 20, 2018
Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the EyeKatie Weihbrecht, Wesley A Goar, Thomas Pak, et al.
Human Molecular Genetics|October 15, 2015
PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompactionEmad Muhammad, Aviva Levitas, Sonia R Singh, et al.
American Journal of Ophthalmology|December 10, 2002
A case-control comparison of the clinical characteristics of glaucoma and ocular hypertensive patients with and without the myocilin Gln368Stop mutationThomas A Graul, Young H Kwon, M Bridget Zimmerman, et al.
Journal of Medical Genetics|June 7, 2020
Mutation in <i>CATIP</i> (C2orf62) causes oligoteratoasthenozoospermia by affecting actin dynamicsMaram Arafat, Avi Harlev, Iris Har-Vardi, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|September 10, 2008
Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosaJohn H Fingert, Kean Oh, Mina Chung, et al.
Pageof 20

Showing results (71-80 of 193) with videos related to

Sort By:
Pageof 20
American Journal of Ophthalmology|November 27, 2007
LOXL1 mutations are associated with exfoliation syndrome in patients from the midwestern United StatesJohn H Fingert, Wallace L M Alward, Young H Kwon, et al.
Human Molecular Genetics|January 25, 2011
The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindnessLisa M Baye, Xiaobai Patrinostro, Svetha Swaminathan, et al.
The Journal of Clinical Investigation|April 3, 2014
Ocular-specific ER stress reduction rescues glaucoma in murine glucocorticoid-induced glaucomaGulab S Zode, Arti B Sharma, Xiaolei Lin, et al.
Gene Therapy|March 5, 2021
Ectopic expression of BBS1 rescues male infertility, but not retinal degeneration, in a BBS1 mouse modelMatthew R Cring, Kacie J Meyer, Charles C Searby, et al.
Human Molecular Genetics|August 15, 2013
BBS mutations modify phenotypic expression of CEP290-related ciliopathiesYan Zhang, Seongjin Seo, Sajag Bhattarai, et al.
Medical Research Archives|February 20, 2018
Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the EyeKatie Weihbrecht, Wesley A Goar, Thomas Pak, et al.
Human Molecular Genetics|October 15, 2015
PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompactionEmad Muhammad, Aviva Levitas, Sonia R Singh, et al.
American Journal of Ophthalmology|December 10, 2002
A case-control comparison of the clinical characteristics of glaucoma and ocular hypertensive patients with and without the myocilin Gln368Stop mutationThomas A Graul, Young H Kwon, M Bridget Zimmerman, et al.
Journal of Medical Genetics|June 7, 2020
Mutation in <i>CATIP</i> (C2orf62) causes oligoteratoasthenozoospermia by affecting actin dynamicsMaram Arafat, Avi Harlev, Iris Har-Vardi, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|September 10, 2008
Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosaJohn H Fingert, Kean Oh, Mina Chung, et al.
Pageof 20