Results
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4001.
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4002.
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4003.
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Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers. [electronic resource] by
- Marras, C
- Schüle, B
- Schuele, B
- Munhoz, R P
- Rogaeva, E
- Langston, J W
- Kasten, M
- Meaney, C
- Klein, C
- Wadia, P M
- Lim, S-Y
- Chuang, R S-I
- Zadikof, C
- Steeves, T
- Prakash, K M
- de Bie, R M A
- Adeli, G
- Thomsen, T
- Johansen, K K
- Teive, H A
- Asante, A
- Reginold, W
- Lang, A E
Producer: 20110927
In:
Neurology vol. 77
Availability: No items available.
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4004.
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4005.
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4006.
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4007.
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Potential of handheld optical coherence tomography to determine cause of infantile nystagmus in children by using foveal morphology. [electronic resource] by
- Lee, Helena
- Sheth, Viral
- Bibi, Mashal
- Maconachie, Gail
- Patel, Aarti
- McLean, Rebecca J
- Michaelides, Michel
- Thomas, Mervyn G
- Proudlock, Frank A
- Gottlob, Irene
Producer: 20140129
In:
Ophthalmology vol. 120
Availability: No items available.
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4008.
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4009.
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Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. [electronic resource] by
- Thiadens, Alberta A H J
- den Hollander, Anneke I
- Roosing, Susanne
- Nabuurs, Sander B
- Zekveld-Vroon, Renate C
- Collin, Rob W J
- De Baere, Elfride
- Koenekoop, Robert K
- van Schooneveld, Mary J
- Strom, Tim M
- van Lith-Verhoeven, Janneke J C
- Lotery, Andrew J
- van Moll-Ramirez, Norka
- Leroy, Bart P
- van den Born, L Ingeborgh
- Hoyng, Carel B
- Cremers, Frans P M
- Klaver, Caroline C W
Producer: 20090923
In:
American journal of human genetics vol. 85
Availability: No items available.
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4010.
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4011.
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4012.
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4013.
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Retinal structure and function in achromatopsia: implications for gene therapy. [electronic resource] by
- Sundaram, Venki
- Wilde, Caroline
- Aboshiha, Jonathan
- Cowing, Jill
- Han, Colin
- Langlo, Christopher S
- Chana, Ravinder
- Davidson, Alice E
- Sergouniotis, Panagiotis I
- Bainbridge, James W
- Ali, Robin R
- Dubra, Alfredo
- Rubin, Gary
- Webster, Andrew R
- Moore, Anthony T
- Nardini, Marko
- Carroll, Joseph
- Michaelides, Michel
Producer: 20140313
In:
Ophthalmology vol. 121
Availability: No items available.
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4014.
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Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel. [electronic resource] by
- Koeppen, Katja
- Reuter, Peggy
- Ladewig, Thomas
- Kohl, Susanne
- Baumann, Britta
- Jacobson, Samuel G
- Plomp, Astrid S
- Hamel, Christian P
- Janecke, Andreas R
- Wissinger, Bernd
Producer: 20101004
In:
Human mutation vol. 31
Availability: No items available.
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4015.
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4016.
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4017.
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4018.
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Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. [electronic resource] by
- Thiadens, Alberta A H J
- Phan, T My Lan
- Zekveld-Vroon, Renate C
- Leroy, Bart P
- van den Born, L Ingeborgh
- Hoyng, Carel B
- Klaver, Caroline C W
- Roosing, Susanne
- Pott, Jan-Willem R
- van Schooneveld, Mary J
- van Moll-Ramirez, Norka
- van Genderen, Maria M
- Boon, Camiel J F
- den Hollander, Anneke I
- Bergen, Arthur A B
- De Baere, Elfride
- Cremers, Frans P M
- Lotery, Andrew J
Producer: 20120517
In:
Ophthalmology vol. 119
Availability: No items available.
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4019.
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4020.
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