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Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population

Neonatal hypotonia is extremely challenging to diagnose because numerous disorders present similar clinical manifestations. Two panels for diagnosing neonatal hypotonia were developed, which enriches 35 genes corresponding to 61 neonatal hypotonia-related disorders. A cohort of 214 neonates with hyp...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Wang, Yan, Peng, Wei, Guo, Hong-Yan, Li, Hui, Tian, Jie, Shi, Yu-Jing, Yang, Xiao, Yang, Yao, Zhang, Wan-Qiao, Liu, Xin, Liu, Guan-Nan, Deng, Tao, Sun, Yi-Min, Xing, Wan-li, Cheng, Jing, Feng, Zhi-Chun
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4926250/
https://ncbi.nlm.nih.gov/pubmed/27353517
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep29088
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