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pro vyhledávání: '"Rossella Manfredini"'
Autor:
Laura Chiesi, Antonio Percesepe, Gian Maria Cavallini, Elena Tenedini, Rossella Manfredini, Valentina Artusi, Claudio Graziano, Valeria Marigo, Antonio P. Ciardella, Antonia Tranchina, Enrico Tagliafico, Nicole Balducci, Isabella Bernardis, Chiara Rinaldi, Lucia Artuso, Antonello Pietrangelo, Monica Camparini, Maria Luisa Simone
Publikováno v:
BioMed Research International
BioMed Research International, Vol 2016 (2016)
BioMed Research International, Vol 2016 (2016)
To assess the clinical utility of targeted Next-Generation Sequencing (NGS) for the diagnosis of Inherited Retinal Dystrophies (IRDs), a total of 109 subjects were enrolled in the study, including 88 IRD affected probands and 21 healthy relatives. Cl