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Non-invasive prenatal screening for Emanuel syndrome
OBJECTIVE: The aim of this study was to validate the results of two Emanuel syndromes detected by non-invasive prenatal screening (NIPS) screening using invasive methods, providing clinical performance of NIPS on chromosome microduplication detection. METHODS: NIPS was performed to diagnose the Eman...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057502/ https://www.ncbi.nlm.nih.gov/pubmed/32158503 http://dx.doi.org/10.1186/s13039-020-0476-7 |