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BMC Medical Genetics

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1. Content Type:Research Article

     |  19 June 2019

   A comprehensive analysis of NPHS1 gene mutations in patients with sporadic focal segmental glomerulosclerosis

   Authors:Ling Zhuo, Lulin Huang, Zhenglin Yang, Guisen Li and Li Wang
2. Content Type:Case Report

     |  17 June 2019

   Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review

   Authors:Yiming Lin, Hongzhi Gao, Bin Lu, Shuang Zhou, Tianwen Zheng, Weihua Lin, Lin Zhu, Mengyi Jiang and Qingliu Fu
3. Content Type:Research Article

     |  14 June 2019

   The association between apolipoprotein E and gallstone disease: an updated meta-analysis

   Authors:Lizhuo Li, Xin Qiao, Xia Wang, Di Liu, Qingmu Xue, Lu Han, Fei Dai, Guomin Ma, Zhipeng Yang, Tao Zhang, Shuo Yang, Shikang Cai, Mingyue Gao and Jingyun Yang
4. Content Type:Case Report

     |  14 June 2019

   Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature

   Authors:Chamara Sampath Paththinige, Nirmala Dushyanthi Sirisena, Fabienne Escande, Sylvie Manouvrier, Florence Petit and Vajira Harshadeva Weerabaddana Dissanayake
5. Content Type:Research Article

     |  13 June 2019

   Association of KCNJ11 rs5219 gene polymorphism with type 2 diabetes mellitus in a population of Syria: a case-control study

   Authors:Osama Makhzoom, Younes Kabalan and Faizeh AL-Quobaili