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V C Sheffield

Showing results (91-100 of 153) with videos related to

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Ophthalmic Genetics|December 1, 1996
Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin geneB Piguet, E Héon, F L Munier, et al.
Ophthalmology|February 1, 1995
A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degenerationM B Gorin, K E Jackson, R E Ferrell, et al.
Genome Research|June 13, 1998
Characterization and comparison of the human and mouse GLC1A glaucoma genesJ H Fingert, L Ying, R E Swiderski, et al.
Human Molecular Genetics|May 1, 1997
Homozygosity mapping of achromatopsia to chromosome 2 using DNA poolingN C Arbour, J Zlotogora, R G Knowlton, et al.
Human Molecular Genetics|August 1, 1994
Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mappingV C Sheffield, R Carmi, A Kwitek-Black, et al.
American Journal of Human Genetics|April 16, 1998
Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1pT M Brennan, D Landau, H Shalev, et al.
Ophthalmic Genetics|February 11, 1998
Clinical and molecular characterization of a family affected with X-linked ocular albinism (OA1)B L Lam, J H Fingert, B C Shutt, et al.
Journal of Glaucoma|December 12, 2001
Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patientsC Kawase, K Kawase, T Taniguchi, et al.
Human Molecular Genetics|June 22, 2000
Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4)D A Scott, R Wang, T M Kreman, et al.
Ophthalmic Genetics|January 5, 2000
Exclusion of AR-CHED from the chromosome 20 region containing the PPMD and AD-CHED lociA B Kanis, A A Al-Rajhi, C M Taylor, et al.
Pageof 16

Showing results (91-100 of 153) with videos related to

Sort By:
Pageof 16
Ophthalmic Genetics|December 1, 1996
Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin geneB Piguet, E Héon, F L Munier, et al.
Ophthalmology|February 1, 1995
A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degenerationM B Gorin, K E Jackson, R E Ferrell, et al.
Genome Research|June 13, 1998
Characterization and comparison of the human and mouse GLC1A glaucoma genesJ H Fingert, L Ying, R E Swiderski, et al.
Human Molecular Genetics|May 1, 1997
Homozygosity mapping of achromatopsia to chromosome 2 using DNA poolingN C Arbour, J Zlotogora, R G Knowlton, et al.
Human Molecular Genetics|August 1, 1994
Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mappingV C Sheffield, R Carmi, A Kwitek-Black, et al.
American Journal of Human Genetics|April 16, 1998
Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1pT M Brennan, D Landau, H Shalev, et al.
Ophthalmic Genetics|February 11, 1998
Clinical and molecular characterization of a family affected with X-linked ocular albinism (OA1)B L Lam, J H Fingert, B C Shutt, et al.
Journal of Glaucoma|December 12, 2001
Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patientsC Kawase, K Kawase, T Taniguchi, et al.
Human Molecular Genetics|June 22, 2000
Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4)D A Scott, R Wang, T M Kreman, et al.
Ophthalmic Genetics|January 5, 2000
Exclusion of AR-CHED from the chromosome 20 region containing the PPMD and AD-CHED lociA B Kanis, A A Al-Rajhi, C M Taylor, et al.
Pageof 16