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

R G Weleber

Showing results (51-60 of 110) with videos related to

Pageof 11
Sort By:
Archives of Ophthalmology (Chicago, Ill. : 1960)|November 1, 1993
Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS geneR G Weleber, R E Carr, W H Murphey, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|September 1, 1984
Ophthalmic manifestations of infantile phytanic acid storage diseaseR G Weleber, A C Tongue, N G Kennaway, et al.
Investigative Ophthalmology & Visual Science|January 14, 2000
A new locus for autosomal dominant congenital cataracts maps to chromosome 3P L Kramer, D LaMorticella, K Schilling, et al.
American Journal of Medical Genetics|July 15, 1992
Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutionsR K Tripathi, K M Strunk, L B Giebel, et al.
Annales De Genetique|December 11, 1976
Duplication-deficiency of the short arm of chromosome 8 following artificial inseminationR G Weleber, R S Verma, W J Kimberling, et al.
American Journal of Medical Genetics|January 8, 1999
Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndromeL O Atchaneeyasakul, L M Linck, W E Connor, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|February 1, 1989
Bietti's crystalline dystrophy. A clinicopathologic correlative studyD J Wilson, R G Weleber, M L Klein, et al.
American Journal of Human Genetics|March 31, 2000
Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2P M Jakobs, J F Hess, P G FitzGerald, et al.
Progress in Clinical and Biological Research|January 1, 1989
Molecular genetics of ornithine aminotransferase defect in gyrate atrophyG Inana, Y Hotta, C Zintz, et al.
The Journal of Biological Chemistry|June 25, 1992
A deletion in the ornithine aminotransferase gene in gyrate atrophyY Akaki, Y Hotta, Y Mashima, et al.
Pageof 11

Showing results (51-60 of 110) with videos related to

Sort By:
Pageof 11
Archives of Ophthalmology (Chicago, Ill. : 1960)|November 1, 1993
Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS geneR G Weleber, R E Carr, W H Murphey, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|September 1, 1984
Ophthalmic manifestations of infantile phytanic acid storage diseaseR G Weleber, A C Tongue, N G Kennaway, et al.
Investigative Ophthalmology & Visual Science|January 14, 2000
A new locus for autosomal dominant congenital cataracts maps to chromosome 3P L Kramer, D LaMorticella, K Schilling, et al.
American Journal of Medical Genetics|July 15, 1992
Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutionsR K Tripathi, K M Strunk, L B Giebel, et al.
Annales De Genetique|December 11, 1976
Duplication-deficiency of the short arm of chromosome 8 following artificial inseminationR G Weleber, R S Verma, W J Kimberling, et al.
American Journal of Medical Genetics|January 8, 1999
Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndromeL O Atchaneeyasakul, L M Linck, W E Connor, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|February 1, 1989
Bietti's crystalline dystrophy. A clinicopathologic correlative studyD J Wilson, R G Weleber, M L Klein, et al.
American Journal of Human Genetics|March 31, 2000
Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2P M Jakobs, J F Hess, P G FitzGerald, et al.
Progress in Clinical and Biological Research|January 1, 1989
Molecular genetics of ornithine aminotransferase defect in gyrate atrophyG Inana, Y Hotta, C Zintz, et al.
The Journal of Biological Chemistry|June 25, 1992
A deletion in the ornithine aminotransferase gene in gyrate atrophyY Akaki, Y Hotta, Y Mashima, et al.
Pageof 11