BMC Medical Genetics | Home page

BMC Medical Genetics | Home page

BMC Medical Genetics

Articles

• Recent
• Most accessed

1. Content Type:Case Report

     |  21 March 2019

   An immunocompetent patient with a nonsense mutation in NHEJ1 gene

   Authors:Hossein Esmaeilzadeh, Mohammad Reza Bordbar, Zahra Hojaji, Parham Habibzadeh, Dorna Afshinfar, Mohammad Miryounesi, Majid Fardaei and Mohammad Ali Faghihi
2. Content Type:Research Article

     |  21 March 2019

   Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus

   Authors:N. V. Petrova, N. Y. Kashirskaya, D. K. Saydaeva, A. V. Polyakov, T.A. Adyan, O. I. Simonova, Y. V. Gorinova, E. I. Kondratyeva, V. D. Sherman, O. G. Novoselova, T. A. Vasilyeva, A. V. Marakhonov, M. Macek Jr, E. K. Ginter and R. A. Zinchenko
3. Content Type:Research Article

     |  20 March 2019

   A novel pathogenic variant in OSBPL2 linked to hereditary late-onset deafness in a Mongolian family

   Authors:Ningjin Wu, Husile Husile, Liqing Yang, Yaning Cao, Xing Li, Wenyan Huo, Haihua Bai, Yangjian Liu and Qizhu Wu
4. Content Type:Research Article

     |  20 March 2019

   A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract

   Authors:Qi Fan, Dan Li, Lei Cai, Xiaodi Qiu, Zhennan Zhao, Jihong Wu, Jin Yang and Yi Lu
5. Content Type:Case Report

     |  19 March 2019

   X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review

   Authors:Naihong Yan, Lirong Xiao, Chen Hou, Bo Guo, Wei Fan, Yingping Deng and Ke Ma