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American Journal of Human Genetics
|
July 1, 1992
Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy
Y Mashima, A Murakami, R G Weleber, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)
|
September 12, 2000
Description of a new mutation in rhodopsin, Pro23Ala, and comparison with electroretinographic and clinical characteristics of the Pro23His mutation
K T Oh, R G Weleber, A Lotery, et al.
Ophthalmology
|
April 1, 1994
Effect of methazolamide on chronic macular edema in patients with retinitis pigmentosa
G A Fishman, L D Gilbert, R J Anderson, et al.
Progress in Clinical and Biological Research
|
January 1, 1991
Molecular basis of ornithine aminotransferase defect in gyrate atrophy
G Inana, Y Hotta, C Zintz, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)
|
August 1, 1989
Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness
R G Weleber, D A Pillers, B R Powell, et al.
American Journal of Medical Genetics
|
May 1, 1990
Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia
D A Pillers, R G Weleber, B R Powell, et al.
Investigative Ophthalmology & Visual Science
|
February 1, 1995
mdxCv3 mouse is a model for electroretinography of Duchenne/Becker muscular dystrophy
D A Pillers, R G Weleber, W R Woodward, et al.
American Journal of Ophthalmology
|
April 28, 1999
Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14
A O Edwards, A Miedziak, T Vrabec, et al.
American Journal of Medical Genetics
|
January 1, 1985
Tandem duplication of proximal 22q: a cause of cat-eye syndrome
J A Reiss, R G Weleber, M G Brown, et al.
Nature Genetics
|
January 1, 1995
Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism
K Fukai, S A Holmes, N J Lucchese, et al.
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of 11
Search research articles
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Showing results (61-70 of 110) with videos related to
Sort By:
Page
of 11
American Journal of Human Genetics
|
July 1, 1992
Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy
Y Mashima, A Murakami, R G Weleber, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)
|
September 12, 2000
Description of a new mutation in rhodopsin, Pro23Ala, and comparison with electroretinographic and clinical characteristics of the Pro23His mutation
K T Oh, R G Weleber, A Lotery, et al.
Ophthalmology
|
April 1, 1994
Effect of methazolamide on chronic macular edema in patients with retinitis pigmentosa
G A Fishman, L D Gilbert, R J Anderson, et al.
Progress in Clinical and Biological Research
|
January 1, 1991
Molecular basis of ornithine aminotransferase defect in gyrate atrophy
G Inana, Y Hotta, C Zintz, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)
|
August 1, 1989
Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness
R G Weleber, D A Pillers, B R Powell, et al.
American Journal of Medical Genetics
|
May 1, 1990
Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia
D A Pillers, R G Weleber, B R Powell, et al.
Investigative Ophthalmology & Visual Science
|
February 1, 1995
mdxCv3 mouse is a model for electroretinography of Duchenne/Becker muscular dystrophy
D A Pillers, R G Weleber, W R Woodward, et al.
American Journal of Ophthalmology
|
April 28, 1999
Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14
A O Edwards, A Miedziak, T Vrabec, et al.
American Journal of Medical Genetics
|
January 1, 1985
Tandem duplication of proximal 22q: a cause of cat-eye syndrome
J A Reiss, R G Weleber, M G Brown, et al.
Nature Genetics
|
January 1, 1995
Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism
K Fukai, S A Holmes, N J Lucchese, et al.
Page
of 11