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V C Sheffield

Showing results (71-80 of 153) with videos related to

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Investigative Ophthalmology & Visual Science|July 1, 1994
RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor functionC M Kemp, S G Jacobson, A V Cideciyan, et al.
American Journal of Human Genetics|December 1, 1999
Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndromeL Ying, Y Katz, M Schlesinger, et al.
Molecular Psychiatry|April 21, 2004
Examination of AVPR1a as an autism susceptibility geneT H Wassink, J Piven, V J Vieland, et al.
Nature Genetics|April 1, 1996
Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organificationV C Sheffield, Z Kraiem, J C Beck, et al.
Nature Genetics|September 1, 1995
Night blindness in Sorsby's fundus dystrophy reversed by vitamin AS G Jacobson, A V Cideciyan, G Regunath, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|December 22, 1999
Clinical characterization and linkage analysis of a family with congenital X-linked nystagmus and deuteranomalyM L Mellott, J Brown, J H Fingert, et al.
The Journal of Clinical Endocrinology and Metabolism|March 20, 1999
Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mappingS Pannain, R E Weiss, C E Jackson, et al.
American Journal of Physical Anthropology|December 5, 1997
Usher syndrome in the Samaritans: strengths and limitations of using inbred isolated populations to identify genes causing recessive disordersB Bonné-Tamir, A Nystuen, E Seroussi, et al.
Genome Research|September 1, 1996
Fine mapping of the autosomal dominant juvenile open angle glaucoma (GLC1A) region and evaluation of candidate genesS L Sunden, W L Alward, B E Nichols, et al.
Nature Genetics|December 8, 1998
Allelic variation in ABCR associated with Stargardt disease but not age-related macular degenerationE M Stone, A R Webster, K Vandenburgh, et al.
Pageof 16

Showing results (71-80 of 153) with videos related to

Sort By:
Pageof 16
Investigative Ophthalmology & Visual Science|July 1, 1994
RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor functionC M Kemp, S G Jacobson, A V Cideciyan, et al.
American Journal of Human Genetics|December 1, 1999
Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndromeL Ying, Y Katz, M Schlesinger, et al.
Molecular Psychiatry|April 21, 2004
Examination of AVPR1a as an autism susceptibility geneT H Wassink, J Piven, V J Vieland, et al.
Nature Genetics|April 1, 1996
Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organificationV C Sheffield, Z Kraiem, J C Beck, et al.
Nature Genetics|September 1, 1995
Night blindness in Sorsby's fundus dystrophy reversed by vitamin AS G Jacobson, A V Cideciyan, G Regunath, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|December 22, 1999
Clinical characterization and linkage analysis of a family with congenital X-linked nystagmus and deuteranomalyM L Mellott, J Brown, J H Fingert, et al.
The Journal of Clinical Endocrinology and Metabolism|March 20, 1999
Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mappingS Pannain, R E Weiss, C E Jackson, et al.
American Journal of Physical Anthropology|December 5, 1997
Usher syndrome in the Samaritans: strengths and limitations of using inbred isolated populations to identify genes causing recessive disordersB Bonné-Tamir, A Nystuen, E Seroussi, et al.
Genome Research|September 1, 1996
Fine mapping of the autosomal dominant juvenile open angle glaucoma (GLC1A) region and evaluation of candidate genesS L Sunden, W L Alward, B E Nichols, et al.
Nature Genetics|December 8, 1998
Allelic variation in ABCR associated with Stargardt disease but not age-related macular degenerationE M Stone, A R Webster, K Vandenburgh, et al.
Pageof 16