Browsing by Author "Álvarez Satta, María"

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  • Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes
    Castro Sánchez, Sheila; Álvarez Satta, María; Tohamy, Mohamed A.; Beltran, Sergi; Derdak, Sophia; Valverde, Diana (Public Library of Science (PLoS), 2017)
    Ciliopathies are a group of rare disorders characterized by a high genetic and phenotypic variability, which complicates their molecular diagnosis. Hence the need to use the latest powerful approaches to faster identify ...