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New microdeletion and microduplication syndromes: A comprehensive review

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 (MCA), autistic spectrum disorders (ASD) and other phenotypic findings. In...

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Detaylı Bibliyografya
Asıl Yazarlar: Nevado, Julián, Mergener, Rafaella, Palomares-Bralo, María, Souza, Karen Regina, Vallespín, Elena, Mena, Rocío, Martínez-Glez, Víctor, Mori, María Ángeles, Santos, Fernando, García-Miñaur, Sixto, García-Santiago, Fé, Mansilla, Elena, Fernández, Luis, de Torres, María Luisa, Riegel, Mariluce, Lapunzina, Pablo
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Sociedade Brasileira de Genética 2014
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3983590/
https://ncbi.nlm.nih.gov/pubmed/24764755
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