CIENCIASMEDICASNEWS: BMC Medical Genetics

Articles

Content Type:Research Article
| 20 April 2018
An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADSgene and its relationship to the ethnic structure in Slovakia
Authors:Jana Lisyová, Ján Chandoga, Petra Jungová, Marcel Repiský, Mária Knapková, Martina Machková, Svetozár Dluholucký, Darina Behúlová, Jana Šaligová, Ľudmila Potočňáková, Miroslava Lysinová and Daniel Böhmer
Content Type:Case Report
| 16 April 2018
A novel TEX11 mutation induces azoospermia: a case report of infertile brothers and literature review
Authors:Yanwei Sha, Liangkai Zheng, Zhiyong Ji, Libin Mei, Lu Ding, Shaobin Lin, Xu Wang, Xiaoyu Yang and Ping Li
Content Type:Research Article
| 12 April 2018
Influence of maternal and own genotype at tanning dependence-related SNPs on sun exposure in childhood
Authors:Jasmine Khouja, Sarah J. Lewis and Carolina Bonilla
Content Type:Case Report
| 12 April 2018
Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson’s disease: a case report
Authors:Gang Liu, Dingyuan Ma, Jian Cheng, Jingjing Zhang, Chunyu Luo, Yun Sun, Ping Hu, Yuguo Wang, Tao Jiang and Zhengfeng Xu
Content Type:Case Report
| 12 April 2018
Identification of a novel nonsense mutation in SH2D1A in a patient with X-linked lymphoproliferative syndrome type 1: a case report
Authors:Xiaodong Lyu, Zhen Guo, Yangwei Li, Ruihua Fan and Yongping Song