biomedicina slovenica


pr=Bitner-Glindzicz : 5

  1. Lenassi Eva; Robson Anthony G.; Luxon Linda M.; Bitner-Glindzicz Maria; Webster Andrew R.
    Clinical heterogeneity in a family with mutations in USH2A
    2015
  2. 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
  3. Lenassi Eva; Saihan Zubin; Bitner-Glindzicz Maria; Webster Andrew R.
    The effect of the common c.2299delG mutation in USH2A on RNA splicing
    2014
  4. 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
  5. 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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