Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Yingchi Lu"'
Autor:
Jiasun Su, Huayu Fu, Bobo Xie, Weiliang Lu, Wei Li, Yuan Wei, Qiang Zhang, Shengkai Wei, Qiuli Chen, Yingchi Lu, Tingting Jiang, Jingsi Luo, Zailong Qin
Publikováno v:
Molecular Cytogenetics, Vol 12, Iss 1, Pp 1-6 (2019)
Abstract Background Cri-du-chat syndrome (CdCS; OMIM#123450) is a classic contiguous gene syndrome caused by chromosome 5p terminal deletion (5p-), which characterized by a high-pitched cat-like cry, developmental delay, severe psychomotor, mental re
Externí odkaz:
https://doaj.org/article/b988669035c5424b99a896023196675a
Autor:
Weiliang Lu, Mingxing Liang, Jiasun Su, Jin Wang, Lingxiao Li, Shujie Zhang, Zailong Qin, Limei Huang, Yingchi Lu, Shang Yi, Sheng Yi, BoBo Xie, Haiyang Zheng, Jingsi Luo, Xiaoyan Gao, Yiping Shen
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 5, Pp n/a-n/a (2020)
Abstract Background A very limited spectrum of ASCC1 pathogenic variants had been reported in six (mostly consanguineous) families with spinal muscular atrophy with congenital bone fractures 2 [OMIM #616867] since 2016. Methods A proband from a non
Externí odkaz:
https://doaj.org/article/a182b4691e5f417f9e86f6c2bf61a08c
Autor:
Qi Yang, Yangjin Zuo, Meng Li, Sheng Yi, Yingchi Lu, Qinle Zhang, Limei Huang, Xin Fan, Jingsi Luo, Mengting Li, Shihan Feng, Zailong Qin
Publikováno v:
Blood Coagulation & Fibrinolysis. 31:121-126
Hemophilia B is an X-linked recessive bleeding disorder caused by diverse mutations throughout the F9 gene. The same F9 mutation may result in different degrees of clotting factor deficiency. The aim of this study was to investigate the pathogenesis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa751679d3df3fc5056f17d799878ec2
https://doi.org/10.1097/mbc.0000000000000884
https://doi.org/10.1097/mbc.0000000000000884
Autor:
Haiyang Zheng, Yingchi Lu, Xiaoyan Gao, Limei Huang, Bobo Xie, Mingxing Liang, Sheng Yi, Zailong Qin, Weiliang Lu, Yiping Shen, Jin Wang, Lingxiao Li, Jingsi Luo, Shujie Zhang, Shang Yi, Jiasun Su
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 5, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background A very limited spectrum of ASCC1 pathogenic variants had been reported in six (mostly consanguineous) families with spinal muscular atrophy with congenital bone fractures 2 [OMIM #616867] since 2016. Methods A proband from a non‐consangu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e259445e7b520ab0b20a804023897a47
https://doaj.org/article/a182b4691e5f417f9e86f6c2bf61a08c
https://doaj.org/article/a182b4691e5f417f9e86f6c2bf61a08c
Autor:
Yingchi Lu, Qiuli Chen, Wei Li, Yuan Wei, Qiang Zhang, Zailong Qin, Weiliang Lu, Bobo Xie, Jiasun Su, Tingting Jiang, Jingsi Luo, Shengkai Wei, Huayu Fu
Publikováno v:
Molecular Cytogenetics, Vol 12, Iss 1, Pp 1-6 (2019)
Molecular Cytogenetics
Molecular Cytogenetics
Background Cri-du-chat syndrome (CdCS; OMIM#123450) is a classic contiguous gene syndrome caused by chromosome 5p terminal deletion (5p-), which characterized by a high-pitched cat-like cry, developmental delay, severe psychomotor, mental retardation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::620ff2ffa02d2bc7bec7de0547d42596
https://doi.org/10.1186/s13039-019-0462-0
https://doi.org/10.1186/s13039-019-0462-0
Autor:
Jiasun Su, Huayu Fu, Xie, Bobo, Weiliang Lu, Li, Wei, Wei, Yuan, Zhang, Qiang, Shengkai Wei, Qiuli Chen, Yingchi Lu, Tingting Jiang, Jingsi Luo, Zailong Qin
Additional file 1: Table S1. Thirty-six prenatal cases with pure 5p terminal deletions were reviewed from 24 published articles included our cases.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49fb366e0aeeb23ee798e58d5e9f0529
Publikováno v:
Chemistry of Natural Compounds. 53:691-693
A new nonadride derivative, named (–)-byssochlamic acid imide (1), was isolated from the co-culture broth of two mangrove fungi (strain Nos. K38 and E33). Their structures were established by comprehensive spectroscopic analyses. Primary bioassays
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0b36416a4b6d62a80e13b5bcf1d7084c
https://doi.org/10.1007/s10600-017-2092-2
https://doi.org/10.1007/s10600-017-2092-2
Autor:
Sheng Yi, Qi Yang, Yangjin Zuo, Mengting Li, Jingsi Luo, Zailong Qin, Qinle Zhang, Meng Li, Limei Huang, Yingchi Lu, Shihan Feng, Xin Fan
Publikováno v:
Blood Coagulation & Fibrinolysis; Mar2020, Vol. 31 Issue 2, p121-126, 6p