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Listar por palabra clave "Usher syndrome"

RiuNet: Repositorio Institucional de la Universidad Politécnica de Valencia

Listar por palabra clave "Usher syndrome"

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    Design and Development of an Information System to Manage Clinical Data about Usher Syndrome Based on Conceptual Modeling 
    Burriel Coll, Verónica; Pastor Cubillo, Mª Ángeles; Celma Giménez, Matilde; Casamayor Rodenas, Juan Carlos; Mota Herranz, Laura (IARIA XPS Press, 2013-03-24)
    [EN] The inefficient management of clinical data in many research environments is a problem which slows down the service provided to patients. The benefits of an Information System created following the conceptual ...
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    Linkage Analysis in Usher Syndrome type I (USH1) Families from Spain 
    Espinós-Armero, Carmen Ángeles; Nájera, Carmen; Millán, José María; Ayuso, Carmen; Baiget, Montserrat; Pérez-Garrigues, Herminio; Rodrigo, Onofre; Vilela, Concepción; Beneyto, Magdalena (BMJ, 1998-05)
    [EN] Usher syndrome (USH) is an autosomal recessive hereditary disorder characterised by congenital sensorineural hearing loss and gradual visual impairment secondary to retinitis pigmentosa (RP). The disorder is clinically ...