Browsing Biological Sciences by Subject "Duplicação cromossômica"

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    • New microdeletion and microduplication syndromes : a comprehensive review 

      Nevado Blanco, Julián; Mergener, Rafaella; Palomares-Bralo, María; Souza, Karen Regina Silva de; Vallespín García, Elena; Mena, Rocío; Martínez-Glez, Víctor; Palomino, María Ángeles; Santos Simarro, Fernando; García Miñaur, Sixto; García Santiago, Fé Amalia; Mansilla Aparicio, Elena; Fernández García-Moya, Luis; Torres Pérez Hidalgo, María Luisa de; Mariluce Riegel, Mariluce Riegel; Lapunzina Badía, Pablo D. (2014) [Journal article]
      Several new microdeletion and microduplication syndromes are emerging as disorders that have been proven to cause multisystem pathologies frequently associated with intellectual disability (ID), multiple congenital anomalies ...