Song Conglei相关文献与解析，生知库 | 链接生命科学的每一步

日期影响因子

Chinese Family With Knobloch Syndrome Associated With a Novel PAK2 Variant Leading to Reduced Phosphorylation Levels.

中国一个患有诺布洛赫综合征的家庭发现一种新的 PAK2 变异导致磷酸化水平降低

期刊:Molecular Genetics & Genomic Medicine

影响因子:1.6

doi:10.1002/mgg3.70099

Shen Liwei, Ye Xiaofei, Wang Xiaocui, Song Conglei, Yang Bin

发表日期：2025

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Correction: SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy

更正：SPOUT1 变异与常染色体隐性遗传性发育和癫痫性脑病相关

doi:10.1186/s42494-025-00240-4

Liu, Wenwei; Gao, Kai; Du, Xilong; Wen, Sijia; Yan, Huifang; Wang, Jingmin; Wang, Yong; Song, Conglei; Lin, Li; Ji, Taoyun; Gu, Weiyue; Jiang, Yuwu

发育与干细胞

发表日期：2025

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SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy

SPOUT1 变异与常染色体隐性遗传性发育和癫痫性脑病相关

doi:10.1186/s42494-024-00185-0

Liu, Wenwei; Gao, Kai; Du, Xilong; Wen, Sijia; Yan, Huifang; Wang, Jingmin; Wang, Yong; Song, Conglei; Lin, Li; Ji, Taoyun; Gu, Weiyue; Jiang, Yuwu

发育与干细胞

发表日期：2024

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Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.

全外显子组测序有助于诊断和治疗伴有不明原因呼吸困难的神经发育迟缓儿童

期刊:Scientific Reports

影响因子:3.9

doi:10.1038/s41598-018-23503-2

Tong Wenjia, Wang Yajian, Lu Yun, Ye Tongsheng, Song Conglei, Xu Yuanyuan, Li Min, Ding Jie, Duan Yuanyuan, Zhang Le, Gu Weiyue, Zhao Xiaoling, Yang Xiu-An, Jin Danqun

发育与干细胞

发表日期：2018

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