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Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies

Chromosomal microarray (CMA) testing, used to identify DNA copy number variations (CNVs), has helped advance knowledge about genetics of human neurodevelopmental disease and congenital anomalies. It has aided in discovering new CNV syndromes and uncovering disease genes. It has discovered CNVs that...

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Detalhes bibliográficos
Publicado no:J Pediatr Genet
Main Authors: Rosenfeld, Jill A., Patel, Ankita
Formato: Artigo
Idioma:Inglês
Publicado em: Georg Thieme Verlag KG 2017
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5288005/
https://ncbi.nlm.nih.gov/pubmed/28180026
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0036-1584306
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