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101.
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Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesis. [electronic resource] by
- Clarke, G
- Goldberg, A F
- Vidgen, D
- Collins, L
- Ploder, L
- Schwarz, L
- Molday, L L
- Rossant, J
- Szél, A
- Molday, R S
- Birch, D G
- McInnes, R R
Producer: 20000612
In:
Nature genetics vol. 25
Availability: No items available.
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102.
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Lipofuscin accumulation, abnormal electrophysiology, and photoreceptor degeneration in mutant ELOVL4 transgenic mice: a model for macular degeneration. [electronic resource] by
- Karan, G
- Lillo, C
- Yang, Z
- Cameron, D J
- Locke, K G
- Zhao, Y
- Thirumalaichary, S
- Li, C
- Birch, D G
- Vollmer-Snarr, H R
- Williams, D S
- Zhang, K
Producer: 20050509
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 102
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103.
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Prevalence of AIPL1 mutations in inherited retinal degenerative disease. [electronic resource] by
- Sohocki, M M
- Perrault, I
- Leroy, B P
- Payne, A M
- Dharmaraj, S
- Bhattacharya, S S
- Kaplan, J
- Maumenee, I H
- Koenekoop, R
- Meire, F M
- Birch, D G
- Heckenlively, J R
- Daiger, S P
Producer: 20000822
In:
Molecular genetics and metabolism vol. 70
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104.
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Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. [electronic resource] by
- Sohocki, M M
- Daiger, S P
- Bowne, S J
- Rodriquez, J A
- Northrup, H
- Heckenlively, J R
- Birch, D G
- Mintz-Hittner, H
- Ruiz, R S
- Lewis, R A
- Saperstein, D A
- Sullivan, L S
Producer: 20010222
In:
Human mutation vol. 17
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105.
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Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa. [electronic resource] by
- Bowne, S J
- Daiger, S P
- Hims, M M
- Sohocki, M M
- Malone, K A
- McKie, A B
- Heckenlively, J R
- Birch, D G
- Inglehearn, C F
- Bhattacharya, S S
- Bird, A
- Sullivan, L S
Producer: 19991216
In:
Human molecular genetics vol. 8
Availability: No items available.
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106.
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Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa. [electronic resource] by
- Buraczynska, M
- Wu, W
- Fujita, R
- Buraczynska, K
- Phelps, E
- Andréasson, S
- Bennett, J
- Birch, D G
- Fishman, G A
- Hoffman, D R
- Inana, G
- Jacobson, S G
- Musarella, M A
- Sieving, P A
- Swaroop, A
Producer: 19980319
In:
American journal of human genetics vol. 61
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107.
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Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. [electronic resource] by
- Sohocki, M M
- Bowne, S J
- Sullivan, L S
- Blackshaw, S
- Cepko, C L
- Payne, A M
- Bhattacharya, S S
- Khaliq, S
- Qasim Mehdi, S
- Birch, D G
- Harrison, W R
- Elder, F F
- Heckenlively, J R
- Daiger, S P
Producer: 20000210
In:
Nature genetics vol. 24
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108.
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Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. [electronic resource] by
- Bech-Hansen, N T
- Naylor, M J
- Maybaum, T A
- Sparkes, R L
- Koop, B
- Birch, D G
- Bergen, A A
- Prinsen, C F
- Polomeno, R C
- Gal, A
- Drack, A V
- Musarella, M A
- Jacobson, S G
- Young, R S
- Weleber, R G
Producer: 20001213
In:
Nature genetics vol. 26
Availability: No items available.
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