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Springer Nature3
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✓Human Genetics3
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Li-an Yu results 3 · Newest (Page 1/1, per page 25)
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Journal: Human Genetics ×Author: Li-an Yu ×Clear All Filters
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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
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De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowthNARA Subscribed
Human Genetics · 2020 · Vol. 139 · Issue 4 · Springer
Yu An; Linna Zhang; Wenwen Liu; Yunyun Jiang; Xue Chen; Xiaoping Lan; Gan Li; Qiang Hang; Jian Wang; James F. Gusella; Yasong Du; Yiping Shen
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Genetic variants of the MRC1 gene and the IFNG gene are associated with leprosy in Han Chinese from Southwest ChinaNARA Subscribed
Human Genetics · 2012 · Vol. 131 · Issue 7 · Springer
Dong Wang; Jia-Qi Feng; Yu-Ye Li; Deng-Feng Zhang; Xiao-An Li; Qing-Wei Li; Yong-Gang Yao
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