Browse by UCL people
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Number of items: 4.
Article
Bonnet, C;
Riahi, Z;
Chantot-Bastaraud, S;
Smagghe, L;
Letexier, M;
Marcaillou, C;
Lefevre, GM;
... Petit, C; + view all
(2016)
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
European Journal of Human Genetics
, 24
(12)
pp. 1730-1738.
10.1038/ejhg.2016.99.
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Fakin, A;
Robson, AG;
Chiang, JP;
Fujinami, K;
Moore, AT;
Michaelides, M;
Holder, GE;
(2016)
The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients.
Investigative Ophthalmology & Visual Science
, 57
(14)
pp. 5963-5973.
10.1167/iovs.16-20446.
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Fakin, A;
Robson, AG;
Fujinami, K;
Moore, AT;
Michaelides, M;
Pei-Wen Chiang, J;
E Holder, G;
(2016)
Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4.
Investigative Opthalmology & Visual Science
, 57
(11)
pp. 4668-4678.
10.1167/iovs.16-19829.
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Lambertus, S;
Bax, NM;
Fakin, A;
Groenewoud, JMM;
Klevering, BJ;
Moore, AT;
Michaelides, M;
... Hoyng, CB; + view all
(2017)
Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease.
PLoS ONE
, 12
(3)
, Article e0174020. 10.1371/journal.pone.0174020.
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