Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Jinshuang Gao"'
Publikováno v:
Molecules, Vol 29, Iss 9, p 1918 (2024)
Cirsium japonicum Fisch. ex DC. (CF) and Cirsium setosum (Willd.) MB (CS) are commonly used clinically to stop bleeding and eliminate carbuncles. Still, CF is mainly used for treating inflammation, while CS favors hemostasis. Therefore, the present s
Externí odkaz:
https://doaj.org/article/29e514f4850d44ec9180c4792fdec7f9
Autor:
Yang Fang, Jinshuang Gao, Yaqing Guo, Xiaole Li, Enwu Yuan, Erfeng Yuan, Liying Song, Qianqian Shi, Haiyang Yu, Dehua Zhao, Linlin Zhang
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-9 (2023)
Abstract Background Phenylketonuria (PKU) is caused by mutations in the phenylalanine hydroxylase (PAH) gene. Our study aimed to predict the phenotype using the allelic genotype. Methods A total of 1291 PKU patients with 623 various variants were use
Externí odkaz:
https://doaj.org/article/a46ca787f2a948c5bc610cd9c3b6589d
Autor:
Jinshuang Gao, Xiaole Li, Yaqing Guo, Haiyang Yu, Liying Song, Yang Fang, Erfeng Yuan, Qianqian Shi, Dehua Zhao, Enwu Yuan, Linlin Zhang
Publikováno v:
Human Genomics, Vol 16, Iss 1, Pp 1-8 (2022)
Abstract Background Phenylketonuria (PKU) is a common, autosomal recessive inborn error of metabolism caused by PAH gene variants. After routine genetic analysis methods were applied, approximately 5% of PKU patients were still not diagnosed with a d
Externí odkaz:
https://doaj.org/article/0f7befa2ee2d484ebd568fd289ff2e65
Autor:
Linlin Zhang, Jinshuang Gao, Hailiang Liu, Yuan Tian, Xiaoli Zhang, Wei Lei, Ying Li, Yaqing Guo, Haiyang Yu, Erfeng Yuan, Lisi Liang, Shihong Cui, Xiaoan Zhang
Publikováno v:
Human Genomics, Vol 14, Iss 1, Pp 1-8 (2020)
Abstract Background Epilepsy is a group of neurological disorders characterized by recurrent epileptic seizures. Epilepsy is affected by many factors, approximately 20–30% of cases are caused by acquired conditions, but in the remaining cases, gene
Externí odkaz:
https://doaj.org/article/f1e4f12150b4437f8ed867403db1f722
Autor:
Linlin Zhang, Yingying Li, Wenli Shi, Jinshuang Gao, Yuan Tian, Ying Li, Yaqing Guo, Shihong Cui, Xiaoan Zhang
Publikováno v:
BMC Pediatrics, Vol 19, Iss 1, Pp 1-5 (2019)
Abstract Background Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive disorder and one of the most common inherent causes of cholestatic jaundice in Asian infants. Mutations in the SLC25A13 gene, which en
Externí odkaz:
https://doaj.org/article/b0957e4cfb9b4359989dde51a5c4ac88
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)
Abstract Background Peroxisome biogenesis disorder 14B (PBD14B) is an autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy pero
Externí odkaz:
https://doaj.org/article/11075d28c7744fca9532db5fe1e19a71
Publikováno v:
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-7 (2018)
Abstract Background Non-invasive prenatal testing (NIPT) is frequently being used to screen for trisomies 13, 18 and 21 for prenatal diagnosis. However, NIPT performs poorly when compared with invasive testing and thus should not be used to diagnose
Externí odkaz:
https://doaj.org/article/57a928002902496fa17240e1d4f8fb22
Autor:
Xiaoli Zhang, Jinshuang Gao, Yaqing Guo, Xiao Li, Chenyu Zhang, Mengyue Wang, Haiyang Yu, Erfeng Yuan, Xiaoli Li, Hao Chen, Jing Guan, Tianming Jia, Linlin Zhang
Background Spinal muscular atrophy (SMA) is one of the common autosomal recessive neuromuscular disease caused by mutations of the SMN1 gene. As a special SMA carrier, the “2 + 0” genotype of SMN1 poses a great challenge for carrier screening and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::abf5a5c0eb1643bcc55b8e24b891cdd9
https://doi.org/10.21203/rs.3.rs-2130080/v1
https://doi.org/10.21203/rs.3.rs-2130080/v1
Autor:
Kang Chen, Zhan Zhang, Linlin Zhang, Weifang Tian, Ying Li, Yajuan Xu, Yuehua Liu, Pingping Liu, Jinshuang Gao, Haiyang Yu, Genxia Li
Publikováno v:
Molecular Syndromology. 12:244-249
Waardenburg syndrome (WS) is a rare genetic disorder characterized by varying combinations of sensorineural hearing loss and abnormal pigmentation involving the hair, skin and iris. WS is classified into 4 subtypes (WS1–WS4) based on additional sym
Autor:
Jinshuang, Gao, Xiaole, Li, Yaqing, Guo, Haiyang, Yu, Liying, Song, Yang, Fang, Erfeng, Yuan, Qianqian, Shi, Dehua, Zhao, Enwu, Yuan, Linlin, Zhang
Background Phenylketonuria (PKU) is a common, autosomal recessive inborn error of metabolism caused by PAH gene variants. After routine genetic analysis methods were applied, approximately 5% of PKU patients were still not diagnosed with a definite g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ed8bddf53077878b6f51c32d309a209
https://doi.org/10.21203/rs.3.rs-1495904/v1
https://doi.org/10.21203/rs.3.rs-1495904/v1