Li-Yan Yu - NARA Discovery

A novel pathogenic synonymous DHCR7 variant unveiled by aberrant splicing in Smith-Lemli-Opitz syndromeNARA Subscribed

Human Genetics · 2026 · Vol. 145 · Issue 1 · Springer

Yan Zhou; Qin Zhang; Quanze He; Guohua Yang; Haibo Li; Yu An

Integrative analysis of transcriptome and proteome wide association studies prioritized functional genes for obesityNARA Subscribed

Human Genetics · 2025 · Vol. 144 · Issue 1 · Springer

Qi-Gang Zhao; Xin-Ling Ma; Qian Xu; Zi-Tong Song; Fan Bu; Kuan Li; Bai-Xue Han; Shan-Shan Yan; Lei Zhang; Yuan Luo; Yu-Fang Pei

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TMEM151A variants associated with paroxysmal kinesigenic dyskinesiaNARA Subscribed

Human Genetics · 2023 · Vol. 142 · Issue 8 · Springer

Hua lin Huang; Qing xia Zhang; Fei Huang; Xiao yan Long; Zhi Song; Bo Xiao; Guo liang Li; Cai yu Ma; Ding Liu

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Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencingNARA Subscribed

Human Genetics · 2023 · Vol. 142 · Issue 6 · Springer

Ruibin Huang; Fang Fu; Hang Zhou; Lu Zhang; Tingying Lei; Ken Cheng; Shujuan Yan; Fei Guo; You Wang; Chunling Ma; Ru Li; Qiuxia Yu; Qiong Deng; Lushan Li; Xin Yang; Jin Han; Dongzhi Li; Can Liao

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Whole exome sequencing improves genetic diagnosis of fetal clubfootNARA Subscribed

Human Genetics · 2023 · Vol. 142 · Issue 3 · Springer

Ruibin Huang; Hang Zhou; Chunling Ma; Fang Fu; Ken Cheng; You Wang; Ru Li; Tingying Lei; Qiuxia Yu; Dan Wang; Shujuan Yan; Xin Yang; Dongzhi Li; Can Liao

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Genome-wide scans reveal variants at EDAR predominantly affecting hair straightness in Han Chinese and Uyghur populationsNARA Subscribed

Human Genetics · 2016 · Vol. 135 · Issue 11 · Springer

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A non-synonymous SNP in the NOS2 associated with septic shock in patients with sepsis in Chinese populationsNARA Subscribed

Human Genetics · 2013 · Vol. 132 · Issue 3 · Springer

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Polymorphisms of the Interleukin 6 gene contribute to cervical cancer susceptibility in Eastern Chinese womenNARA Subscribed

Human Genetics · 2013 · Vol. 132 · Issue 3 · Springer

Ting-Yan Shi; Mei-Ling Zhu; Jing He; Meng-Yun Wang; Qiao-Xin Li; Xiao-Yan Zhou; Meng-Hong Sun; Zhi-Ming Shao; Ke-Da Yu; Xi Cheng; Xiaohua Wu; Qingyi Wei

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Suggestion of GLYAT gene underlying variation of bone size and body lean mass as revealed by a bivariate genome-wide association studyNARA Subscribed

Human Genetics · 2013 · Vol. 132 · Issue 2 · Springer

Yan-Fang Guo; Li-Shu Zhang; Yong-Jun Liu; Hong-Gang Hu; Jian Li; Qing Tian; Ping Yu; Feng Zhang; Tie-Lin Yang; Yan Guo; Xiang-Lei Peng; Meng Dai; Wei Chen; Hong-Wen Deng

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Polymorphisms in the XPG gene and risk of gastric cancer in Chinese populationsNARA Subscribed

Human Genetics · 2012 · Vol. 131 · Issue 7 · Springer

Jing He; Li-Xin Qiu; Meng-Yun Wang; Rui-Xi Hua; Ruo-Xin Zhang; Hong-Ping Yu; Ya-Nong Wang; Meng-Hong Sun; Xiao-Yan Zhou; Ya-Jun Yang; Jiu-Cun Wang; Li Jin; Qing-Yi Wei; Jin Li

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ATG16L1 T300A polymorphism and Crohn’s disease susceptibility: evidence from 13,022 cases and 17,532 controlsNARA Subscribed

Human Genetics · 2009 · Vol. 125 · Issue 5-6 · Springer

Hai-Feng Zhang; Li-Xin Qiu; Yu Chen; Wa-Li Zhu; Chen Mao; Li-Guang Zhu; Ming-Hua Zheng; Yan Wang; Lei Lei; Jian Shi

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Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31NARA Subscribed

Human Genetics · 2009 · Vol. 125 · Issue 1 · Springer

Xue-Zhong Liu; Yongyi Yuan; Denise Yan; Emilie Hong Ding; Xiao Mei Ouyang; Yu Fei; Wenxue Tang; Huijun Yuan; Qing Chang; Li Lin Du; Xin Zhang; Guojian Wang; Shoeb Ahmad; Dong Yang Kang; Xi Lin; Pu Dai

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Genome-wide association scan for stature in Chinese: evidence for ethnic specific lociNARA Subscribed

Human Genetics · 2009 · Vol. 125 · Issue 1 · Springer

Shu-Feng Lei; Tie-Lin Yang; Li-Jun Tan; Xiang-Ding Chen; Yan Guo; Yan-Fang Guo; Liang Zhang; Xiao-Gang Liu; Han Yan; Feng Pan; Zhi-Xin Zhang; Yu-Mei Peng; Qi Zhou; Li-Na He; Xue-Zhen Zhu; Jing Cheng; Yao-Zhong Liu; Christopher J. Papasian; Hong-Wen Deng

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Structure and function of glucose-6-phosphate dehydrogenase-deficient variants in Chinese populationNARA Subscribed

Human Genetics · 2006 · Vol. 119 · Issue 5 · Springer

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A common IL-13 Arg130Gln single nucleotide polymorphism among Chinese atopy patients with allergic rhinitisNARA Subscribed

Human Genetics · 2003 · Vol. 113 · Issue 5 · Springer

Min Wang; Zhi-Min Xing; Chao Lu; You-Xiang Ma; De-Lin Yu; Zheng Yan; Shen-Wu Wang; Li-Sheng Yu

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