herenciageneticayenfermedad: BMC Medical Genetics

Articles

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
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
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
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
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