Rare Diseases
Records 1 - 5 (of 5 Records) |
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The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population. Beatrice Spedicati et al. Biomedicines 2023 11(3) |
Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A). Iannaccone Alessandro et al. American journal of medical genetics. Part A 2021 |
Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation. Molina-Ramírez Leslie P et al. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2020 Apr 41(4) 431-437 |
Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease. Yahalom Claudia et al. Ophthalmic genetics 2018 May 1-7 |
Advances in genetic hearing loss: CIB2 gene. Jacoszek Agnieszka et al. European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2016 Oct |