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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...
Autores principales: | Sansović, Ivona, Ivankov, Ana-Maria, Bobinec, Adriana, Kero, Mijana, Barišić, Ingeborg |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Croatian Medical Schools
2017
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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 |
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