CIENCIASMEDICASNEWS: BMC Medical Genetics

Articles

Content Type:Case Report
| 6 November 2018
A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report
Authors:Qin Wang, Jingxin Yang, Yang Liu, Xingping Li, Fuwei Luo and Jiansheng Xie
Content Type:Case Report
| 30 October 2018
NSDHL-containing duplication at Xq28 in a male patient with autism spectrum disorder: a case report
Authors:Chun-Chun Hu, Yun-Jun Sun, Chun-xue Liu, Bing-rui Zhou, Chun-yang Li, Qiong Xu and Xiu Xu
Content Type:Research Article
| 30 October 2018
Novel MEF2C point mutations in Chinese patients with Rett (−like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation
Authors:Jiaping Wang, Qingping Zhang, Yan Chen, Shujie Yu, Xiru Wu, Xinhua Bao and Yongxin Wen
Content Type:Research Article
| 19 October 2018
A novel mutation in the CRYAA gene associated with congenital cataract and microphthalmia in a Chinese family
Authors:Zixun Song, Nuo Si and Wei Xiao
Content Type:Case Report
| 19 October 2018
Detection of a heterozygous germline APCmutation in a three-generation family with familial adenomatous polyposis using targeted massive parallel sequencing in Vietnam
Authors:Hoa Giang, Vu T Nguyen, Sinh D Nguyen, Huu-Phuc Nguyen, Binh T Vo, Truc M Nguyen, Nguyen H Nguyen, Kiet D Truong, Thanh-Thuy T Do, Minh-Duy Phan and Hoai-Nghia Nguyen