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Human Mutation
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May 12, 2009
Predicting the pathogenicity of RPE65 mutations
A R Philp, M Jin, S Li, et al.
Nature Genetics
|
February 14, 1998
TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa
P Banerjee, P W Kleyn, J A Knowles, et al.
Investigative Ophthalmology & Visual Science
|
June 14, 2000
Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa
S G Jacobson, A V Cideciyan, A Iannaccone, et al.
Neuron
|
January 14, 1998
Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration
P K Swain, S Chen, Q L Wang, et al.
Nature Genetics
|
April 28, 2001
Gene therapy restores vision in a canine model of childhood blindness
G M Acland, G D Aguirre, J Ray, et al.
Nature Biotechnology
|
October 23, 1997
Genetically engineered large animal model for studying cone photoreceptor survival and degeneration in retinitis pigmentosa
R M Petters, C A Alexander, K D Wells, et al.
American Journal of Human Genetics
|
December 18, 1997
Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa
M Buraczynska, W Wu, R Fujita, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)
|
March 20, 2001
Mutations in the CRB1 gene cause Leber congenital amaurosis
A J Lotery, S G Jacobson, G A Fishman, et al.
American Journal of Human Genetics
|
November 1, 1996
Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients
M D Weston, P M Kelley, L D Overbeck, et al.
Investigative Ophthalmology & Visual Science
|
May 1, 2001
An analysis of allelic variation in the ABCA4 gene
A R Webster, E Héon, A J Lotery, et al.
Page
of 14
Search research articles
Search
Showing results (121-130 of 139) with videos related to
Sort By:
Page
of 14
Human Mutation
|
May 12, 2009
Predicting the pathogenicity of RPE65 mutations
A R Philp, M Jin, S Li, et al.
Nature Genetics
|
February 14, 1998
TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa
P Banerjee, P W Kleyn, J A Knowles, et al.
Investigative Ophthalmology & Visual Science
|
June 14, 2000
Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa
S G Jacobson, A V Cideciyan, A Iannaccone, et al.
Neuron
|
January 14, 1998
Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration
P K Swain, S Chen, Q L Wang, et al.
Nature Genetics
|
April 28, 2001
Gene therapy restores vision in a canine model of childhood blindness
G M Acland, G D Aguirre, J Ray, et al.
Nature Biotechnology
|
October 23, 1997
Genetically engineered large animal model for studying cone photoreceptor survival and degeneration in retinitis pigmentosa
R M Petters, C A Alexander, K D Wells, et al.
American Journal of Human Genetics
|
December 18, 1997
Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa
M Buraczynska, W Wu, R Fujita, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)
|
March 20, 2001
Mutations in the CRB1 gene cause Leber congenital amaurosis
A J Lotery, S G Jacobson, G A Fishman, et al.
American Journal of Human Genetics
|
November 1, 1996
Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients
M D Weston, P M Kelley, L D Overbeck, et al.
Investigative Ophthalmology & Visual Science
|
May 1, 2001
An analysis of allelic variation in the ABCA4 gene
A R Webster, E Héon, A J Lotery, et al.
Page
of 14