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BMC Medical Genetics

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1. Content Type:Research Article

     |  14 February 2019

   Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

   Authors:Jayesh Sheth, Riddhi Bhavsar, Mehul Mistri, Dhairya Pancholi, Ashish Bavdekar, Ashwin Dalal, Prajnya Ranganath, Katta M Girisha, Anju Shukla, Shubha Phadke, Ratna Puri, Inusha Panigrahi, Anupriya Kaur, Mamta Muranjan, Manisha Goyal, Radha Ramadevi…
2. Content Type:Research Article

     |  14 February 2019

   Association of vitamin D receptor gene variants with polycystic ovary syndrome: a meta-analysis

   Authors:Xiao-Yuan Shi, Ai-Ping Huang, Duo-Wen Xie and Xiao-Long Yu
3. Content Type:Case Report

     |  13 February 2019

   Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family

   Authors:Na Shen, Ting Wang, Delei Li, Aiguo Liu and Yanjun Lu
4. Content Type:Research Article

     |  8 February 2019

   TNFSF15 promoter polymorphisms increase the susceptibility to small cell lung cancer: a case-control study

   Authors:Hui Gao, Zeren Niu, Zhi Zhang, Hongjiao Wu, Yuning Xie, Zhenbang Yang, Ang Li, Zhenxian Jia and Xuemei Zhang
5. Content Type:Research Article

     |  1 February 2019

   ATM rs189037 (G > A) polymorphism increased the risk of cancer: an updated meta-analysis

   Authors:Zhi-liang Zhao, Lu Xia, Cong Zhao and Jun Yao