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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...

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Detalles Bibliográficos
Autores principales:	Luo, Yuqin, Lin, Jie, Sun, Yixi, Qian, Yeqing, Wang, Liya, Chen, Min, Dong, Minyue, Jin, Fan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Research
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

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