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BMC Medical Genetics

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1. Rapid response of stage IV colorectal cancer with APC/TP53/KRAS mutations to FOLFIRI and Bevacizumab combination chemotherapy: a case report of use of liquid biopsy

   Authors:Alexander Hendricks, Philip Rosenstiel, Sebastian Hinz, Greta Burmeister, Christoph Röcken, Kathrin Boersch, Clemens Schafmayer, Thomas Becker, Andre Franke and Michael Forster

   Content type:Case report

   3 January 2020

2. lncRNA TINCR sponges miR-214-5p to upregulate ROCK1 in hepatocellular carcinoma

   Authors:Min Hu, Yaowu Han, Ying Zhang, Yuanfeng Zhou and Lin Ye

   Content type:Research article

   3 January 2020

3. Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF

   Authors:Athar Khalil, Samer Bou Karroum, Rana Barake, Gabriel Dunya, Samer Abou-Rizk, Amina Kamar, Georges Nemer and Marc Bassim

   Content type:Research article

   2 January 2020

4. Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case report

   Authors:Jianping Jiang, Jinwei Huang, Jianlei Gu, Xiaoshu Cai, Hongyu Zhao and Hui Lu

   Content type:Case report

   30 December 2019

5. A heterozygous duplication variant of the HOXD13 gene caused synpolydactyly type 1 with variable expressivity in a Chinese family

   Authors:Tahir Zaib, Wei Ji, Komal Saleem, Guangchen Nie, Chao Li, Lin Cao, Baijun Xu, Kexian Dong, Hanfei Yu, Xuguang Hao, Yan Xue, Shuhan Si, Xueyuan Jia, Jie Wu, Xuelong Zhang, Rongwei Guan…

   Content type:Research article

   23 December 2019