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Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability

AIM: To determine the diagnostic yield and criteria that could help to classify and interpret the copy number variations (CNVs) detected by chromosomal microarray (CMA) technique in patients with congenital and developmental abnormalities including dysmorphia, developmental delay (DD) or intellectua...

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Detalles Bibliográficos
Autores principales: Sansović, Ivona, Ivankov, Ana-Maria, Bobinec, Adriana, Kero, Mijana, Barišić, Ingeborg
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Croatian Medical Schools 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5470123/
https://www.ncbi.nlm.nih.gov/pubmed/28613040
http://dx.doi.org/10.3325/cmj.2017.58.231