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Heterozygous variant in FGFR3 underlying severe phenotypes in the second trimester: a case report
Author: Chen, Shujun; Dong, Hongmei; Luo, Yong; Zhang, Yingpin; Li, Pan
Journal: BMC MEDICAL GENOMICS. 2023; Vol. 16, Issue 1, pp. -. DOI: 10.1186/s12920-023-01517-8
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Causal effects of modifiable risk factors on kidney stones: a bidirectional mendelian randomization study
Author: Liu, Wen; Wang, Miaomiao; Liu, Jianyong; Yan, Qiuxia; Liu, Ming
Journal: BMC MEDICAL GENOMICS. 2023; Vol. 16, Issue 1, pp. -. DOI: 10.1186/s12920-023-01520-z
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Genetic disorders and pregnancy outcomes of non-immune hydrops fetalis in a tertiary referral center
Author: Guo, Danhua; He, Shuqiong; Lin, Na; Dai, Yifang; Li, Ying; Xu, Liangpu; Wu, Xiaoqing
Journal: BMC MEDICAL GENOMICS. 2023; Vol. 16, Issue 1, pp. -. DOI: 10.1186/s12920-023-01505-y
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Basement membrane-related regulators for prediction of prognoses and responses to diverse therapies in hepatocellular carcinoma
Author: Ding, Ruili; Zhao, Chuanbing; Jing, Yixin; Chen, Rong; Meng, Qingtao
Journal: BMC MEDICAL GENOMICS. 2023; Vol. 16, Issue 1, pp. -. DOI: 10.1186/s12920-023-01504-z
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De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia
Author: Huang, Xiaoyu; Rui, Xue; Zhang, Shuang; Qi, Xiaolong; Rong, Weining; Sheng, Xunlun
Journal: BMC MEDICAL GENOMICS. 2023; Vol. 16, Issue 1, pp. -. DOI: 10.1186/s12920-023-01516-9
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Novel, heterozygous, de novo pathogenic variant (c.4963delA: p.Thr1656Glnfs*42) of the NF1 gene in a Chinese family with neurofibromatosis type 1
Author: Yang, Lisha; Fu, Jiewen; Cheng, Jingliang; Zhou, Baixu; Chen, Maomei; Anuchapreeda, Songyot; Fu, Junjiang
Journal: BMC MEDICAL GENOMICS. 2023; Vol. 16, Issue 1, pp. -. DOI: 10.1186/s12920-023-01514-x
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A pyroptosis-related gene signature provides an alternative for predicting the prognosis of patients with hepatocellular carcinoma
Author: Lin, Dezhao; Chen, Zhuoyan; Zeng, Yuan; Ding, Yinrong; Zhao, Luying; Xu, Qian; Yu, Fujun; Song, Xian; Zhu, Xiaohong
Journal: BMC MEDICAL GENOMICS. 2023; Vol. 16, Issue 1, pp. -. DOI: 10.1186/s12920-023-01431-z
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A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures
Author: Zhuang, Jianlong; Xie, Meihua; Yao, Jianfeng; Fu, Wanyu; Zeng, Shuhong; Jiang, Yuying; Wang, Yuanbai; Xie, Yingjun; Wang, Gaoxiong; Chen, Chunnuan
Journal: BMC MEDICAL GENOMICS. 2023; Vol. 16, Issue 1, pp. -. DOI: 10.1186/s12920-023-01433-x