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BMC Medical Genetics | Home page



BMC Medical Genetics

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1. Content Type:Case Report

     |  29 March 2019

   A novel PHKA2 mutation in a Chinese child with glycogen storage disease type IXa: a case report and literature review

   Authors:Junling Fu, Tong Wang and Xinhua Xiao
2. Content Type:Research Article

     |  29 March 2019

   Rare RNF213 variants and the risk of intracranial artery stenosis/occlusion disease in Chinese population: a case-control study

   Authors:Xin Liao, Tong Zhang, Bingyang Li, Shimin Hu, Junyu Liu, Jing Deng, Hongzhuan Tan and Junxia Yan
3. Content Type:Research Article

     |  29 March 2019

   Weighted correlation network and differential expression analyses identify candidate genes associated with BRAFgene in melanoma

   Authors:Bin Zhao, Yanqiu You, Zheng Wan, Yunhan Ma, Yani Huo, Hongyi Liu, Yuanyuan Zhou, Wei Quan, Weibin Chen, Xiaohong Zhang, Fujun Li and Yilin Zhao
4. Content Type:Research Article

     |  29 March 2019

   Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature

   Authors:Ben Pode-Shakked, Asaf Vivante, Ortal Barel, Shai Padeh, Dina Marek-Yagel, Alvit Veber, Shachar Abudi, Aviva Eliyahu, Irit Tirosh, Shiri Shpilman, Shirlee Shril, Friedhelm Hildebrandt, Mordechai Shohat and Yair Anikster
5. Content Type:Research Article

     |  22 March 2019

   Meta-analysis of associations of vascular endothelial growth factor protein levels and -634G/C polymorphism with systemic lupus erythematosus susceptibility

   Authors:Wenzhuang Tang, Tianbiao Zhou, Zhiqing Zhong and Hongzhen Zhong