Human Genomics | Home page

Human Genomics | Home page

Human Genomics

Official journal of

• 
• Human Genome Organization

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1. Content Type:Primary Research

     |  4 October 2018

   Identification of gross deletions in FBN1 gene by MLPA

   Authors:Hang Yang, Yanyun Ma, Mingyao Luo, Kun Zhao, Yinhui Zhang, Guoyan Zhu, Xiaogang Sun, Fanyan Luo, Lin Wang, Chang Shu and Zhou Zhou
2. Content Type:Primary Research

     |  1 October 2018

   Impact of ZBTB7A hypomethylation and expression patterns on treatment response to hydroxyurea

   Authors:Vasiliki Chondrou, Eleana F. Stavrou, Georgios Markopoulos, Alexandra Kouraklis-Symeonidis, Vasilios Fotopoulos, Argiris Symeonidis, Efthymia Vlachaki, Panagiota Chalkia, George P. Patrinos, Adamantia Papachatzopoulou and Argyro Sgourou
3. Content Type:Primary Research

     |  17 September 2018

   Identification of TBX2 and TBX3 variants in patients with conotruncal heart defects by target sequencing

   Authors:Huilin Xie, Erge Zhang, Nanchao Hong, Qihua Fu, Fen Li, Sun Chen, Yu Yu and Kun Sun
4. Content Type:Primary Research

     |  15 September 2018

   Architecture of polymorphisms in the human genome reveals functionally important and positively selected variants in immune response and drug transporter genes

   Authors:Yu Jin, Jingbo Wang, Maulana Bachtiar, Samuel S. Chong and Caroline G. L. Lee
5. Content Type:Primary Research

     |  14 September 2018

   Secondary findings in 421 whole exome-sequenced Chinese children

   Authors:Wen Chen, Wenke Li, Yi Ma, Yujing Zhang, Bianmei Han, Xuewen Liu, Kun Zhao, Meixian Zhang, Jie Mi, Yuanyuan Fu and Zhou Zhou

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