BMC Medical Genetics | Home page

BMC Medical Genetics | Home page

Articles

• Recent
• Most accessed

1. Association between FCGR2A rs1801274 and MUC5B rs35705950 variations and pneumonia susceptibility

   Authors:Xueshu Shi, Yue Ma, Haiyan Li and Huanxin Yu

   Content type:Research article

   6 April 2020

2. Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation

   Authors:Begona Sanchez-Lechuga, Muhammad Saqlain, Nicholas Ng, Kevin Colclough, Conor Woods and Maria Byrne

   Content type:Case report

   3 April 2020

3. Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability

   Authors:Mei Daoqi, Chen Guohong, Wang Yuan, Yang Zhixiao, Xu Kaili and Mei Shiyue

   Content type:Case report

   3 April 2020

4. Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report

   Authors:Kodai Kume, Hiroyuki Morino, Ryosuke Miyamoto, Yukiko Matsuda, Ryosuke Ohsawa, Yuhei Kanaya, Yui Tada, Takashi Kurashige and Hideshi Kawakami

   Content type:Case report

   31 March 2020

5. Identification of a novel DDB2 mutation in a Chinese Han family with Xeroderma pigmentosum group E:a case report and literature review

   Authors:Rui Yang, Qingtao Kong, Yuanyuan Duan, Weiwei Li and Hong Sang

   Content type:Case report

   30 March 2020