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V C Sheffield

Showing results (51-60 of 153) with videos related to

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American Journal of Human Genetics|October 1, 1995
Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from IsraelD A Scott, R Carmi, K Elbedour, et al.
Molecular and Biochemical Parasitology|July 1, 1995
cDNA expressed sequence tags of Trypanosoma brucei rhodesiense provide new insights into the biology of the parasiteN M el-Sayed, C M Alarcon, J C Beck, et al.
Investigative Ophthalmology & Visual Science|December 1, 2001
Delayed secondary glucocorticoid responsiveness of MYOC in human trabecular meshwork cellsA R Shepard, N Jacobson, J H Fingert, et al.
Human Molecular Genetics|May 1, 1993
A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the foveaB E Nichols, A V Drack, K Vandenburgh, et al.
Nature Genetics|March 1, 1993
Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS geneB E Nichols, V C Sheffield, K Vandenburgh, et al.
Experimental Eye Research|November 1, 1996
Preferential rod and cone photoreceptor abnormalities in heterozygotes with point mutations in the RDS geneS G Jacobson, A V Cideciyan, A M Maguire, et al.
Ophthalmology|December 1, 1991
Regional distribution of retinal degeneration in patients with the proline to histidine mutation in codon 23 of the rhodopsin geneE M Stone, A E Kimura, B E Nichols, et al.
Brain Research. Molecular Brain Research|May 13, 1999
Expression pattern and in situ localization of the mouse homologue of the human MYOC (GLC1A) gene in adult brainR E Swiderski, L Ying, M D Cassell, et al.
Human Molecular Genetics|January 1, 1995
Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy)D M Brown, K Vandenburgh, A E Kimura, et al.
Human Molecular Genetics|August 13, 1998
Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutationC Heaney, H Shalev, K Elbedour, et al.
Pageof 16

Showing results (51-60 of 153) with videos related to

Sort By:
Pageof 16
American Journal of Human Genetics|October 1, 1995
Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from IsraelD A Scott, R Carmi, K Elbedour, et al.
Molecular and Biochemical Parasitology|July 1, 1995
cDNA expressed sequence tags of Trypanosoma brucei rhodesiense provide new insights into the biology of the parasiteN M el-Sayed, C M Alarcon, J C Beck, et al.
Investigative Ophthalmology & Visual Science|December 1, 2001
Delayed secondary glucocorticoid responsiveness of MYOC in human trabecular meshwork cellsA R Shepard, N Jacobson, J H Fingert, et al.
Human Molecular Genetics|May 1, 1993
A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the foveaB E Nichols, A V Drack, K Vandenburgh, et al.
Nature Genetics|March 1, 1993
Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS geneB E Nichols, V C Sheffield, K Vandenburgh, et al.
Experimental Eye Research|November 1, 1996
Preferential rod and cone photoreceptor abnormalities in heterozygotes with point mutations in the RDS geneS G Jacobson, A V Cideciyan, A M Maguire, et al.
Ophthalmology|December 1, 1991
Regional distribution of retinal degeneration in patients with the proline to histidine mutation in codon 23 of the rhodopsin geneE M Stone, A E Kimura, B E Nichols, et al.
Brain Research. Molecular Brain Research|May 13, 1999
Expression pattern and in situ localization of the mouse homologue of the human MYOC (GLC1A) gene in adult brainR E Swiderski, L Ying, M D Cassell, et al.
Human Molecular Genetics|January 1, 1995
Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy)D M Brown, K Vandenburgh, A E Kimura, et al.
Human Molecular Genetics|August 13, 1998
Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutationC Heaney, H Shalev, K Elbedour, et al.
Pageof 16