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BMC Medical Genetics

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1. Content Type:Case Report

     |  27 August 2019

   Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report

   Authors:Xianghong Li, Liangshan Li, Yaqi Sun, Fuyan Lv, Guoqing Zhang, Wenmiao Liu, Meiyan Zhang, Hong Jiang and Shiguo Liu
2. Content Type:Research Article

     |  23 August 2019

   Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families

   Authors:Abida Akbar, Claire Prince, Chloe Payne, James Fasham, Wasim Ahmad, Emma L. Baple, Andrew H. Crosby, Gaurav V. Harlalka and Asma Gul
3. Content Type:Research Article

     |  20 August 2019

   MC4R variants rs12970134 and rs17782313 are associated with obese polycystic ovary syndrome patients in the Western region of Saudi Arabia

   Authors:Asma A. Batarfi, Najlaa Filimban, Osama S. Bajouh, Ashraf Dallol, Adeel G. Chaudhary and Sherin Bakhashab
4. Content Type:Research Article

     |  16 August 2019

   Relationship between the rs2596542 polymorphism in the MICA gene promoter and HBV/HCV infection-induced hepatocellular carcinoma: a meta-analysis

   Authors:Xiaojun Luo, Yu Wang, Ai Shen, Hejun Deng and Min Ye
5. Content Type:Research Article

     |  16 August 2019

   Association of hypoxia-inducible factor-1α (HIF1α) 1790G/A gene polymorphism with renal cell carcinoma and prostate cancer susceptibility: a meta-analysis

   Authors:Hong-Yan Li, Tianbiao Zhou, Wenshan Lin, Shujun Lin and Hongzhen Zhong