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biomedicina slovenica |
pr=Bitner-Glindzicz : 5
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Lenassi Eva; Robson Anthony G.; Luxon Linda M.; Bitner-Glindzicz Maria; Webster Andrew R.
Clinical heterogeneity in a family with mutations in USH2A
2015 ►
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Steele-Stallard Heather B; Stabej Polona; Lenassi Eva; Luxon Linda M.; Claustres Mireille; Roux Anne-Francoise; Webster Andrew R.; Bitner-Glindzicz Maria
Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing
2013 ►
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Lenassi Eva; Saihan Zubin; Bitner-Glindzicz Maria; Webster Andrew R.
The effect of the common c.2299delG mutation in USH2A on RNA splicing
2014 ►
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Lenassi Eva; Saihan Zubin; Cipriani Valentina; Stabej Polona; Moore Anthony T.; Luxon Linda M.; Bitner-Glindzicz Maria; Webster Andrew R.
Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation
2014 ►
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Lenassi Eva; Saihan Zubin; Li Zheng; Hawlina Marko; Moore Anthony T.; Luxon Linda M.; Steel Karen P.; Bitner-Glindzicz Maria; Webster Andrew R.
A study of non-syndromic retinal dystrophy due to mutations in the USH 2A gene
2012 ►
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Institute for Biostatistics and Medical Informatics