Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Chenlu Jia"'
Autor:
Chenlu, Jia, Dehua, Zhao, Yanru, Li, Yanbo, Gao, Xiaoli, Zhang, Xiaole, Li, Shubo, Lv, Runqing, Li, Xinyun, Zhu, Suna, Liu
Publikováno v:
Clinica Chimica Acta. 539:90-96
Duchenne Muscular Dystrophy (DMD) is a rare disorder caused by mutations in the dystrophin gene. Recent availability in treatment for DMD raised the need of early screening in our center, but newborn screening (NBS) for DMD has not been carried out i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::879e252d2b3abb10d4ec91ccefe8d779
https://doi.org/10.1016/j.cca.2022.11.024
https://doi.org/10.1016/j.cca.2022.11.024
Autor:
Yuan, Tian, Xinyun, Zhu, Shubo, Lv, Chenlu, Jia, Linlin, Zhang, Min, Ni, Yizhuo, Xu, Rui, Peng, Suna, Liu, Dehua, Zhao
Publikováno v:
Clinica Chimica Acta. 536:155-161
Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is a rare inherited metabolic disorder of fatty acid β-oxidation and one of the most common inborn errors of metabolism. The incidence of MCADD varies among regions and ethnic groups. To
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30069a2777876a9714b15310b015c47f
https://doi.org/10.1016/j.cca.2022.09.008
https://doi.org/10.1016/j.cca.2022.09.008
Autor:
Xiaole, Li, Dengna, Zhu, Suna, Liu, Chenlu, Jia, Yaqing, Guo, Linlin, Zhang, Mingmei, Wang, Dehua, Zhao
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 39(7)
To explore the genetic basis for a child featuring tetrahydrobiopterin deficiency and global developmental delay.Clinical and laboratory examinations were carried out for the child. Genomic DNA of the patient was subjected to high-throughput sequenci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9a7816b2fc5ca279fb651fe4cd87e62b
https://pubmed.ncbi.nlm.nih.gov/35810427
https://pubmed.ncbi.nlm.nih.gov/35810427
Publikováno v:
International Conference on Algorithms, Microchips and Network Applications.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ab5d9fbe7d79064dea22d11fee0dbd64
https://doi.org/10.1117/12.2636680
https://doi.org/10.1117/12.2636680
Publikováno v:
International Conference on Algorithms, Microchips and Network Applications.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f73bf4ae318c99e2a576f795633556b4
https://doi.org/10.1117/12.2636677
https://doi.org/10.1117/12.2636677
Publikováno v:
2022 IEEE 5th Eurasian Conference on Educational Innovation (ECEI).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fce781bf54b59f64c5db5459316da4bc
https://doi.org/10.1109/ecei53102.2022.9829443
https://doi.org/10.1109/ecei53102.2022.9829443
The BAFF/BAFF-R signal correlates with antibody-mediated rejection and renal function decline after renal transplantation. We investigated the relationship between BAFF/BAFF-R single nucleotide polymorphisms (SNPs) and renal graft function in kidney
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::518e6970dc518abdca3ae60e0fa0c25c
https://doi.org/10.21203/rs.3.rs-1337055/v1
https://doi.org/10.21203/rs.3.rs-1337055/v1
Publikováno v:
2022 International Conference on Big Data, Information and Computer Network (BDICN).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ff0e84a929ca031af56807eeaf86a225
https://doi.org/10.1109/bdicn55575.2022.00108
https://doi.org/10.1109/bdicn55575.2022.00108
Publikováno v:
2022 International Conference on Big Data, Information and Computer Network (BDICN).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::677a86c74dad126ec13b1b07d3503af2
https://doi.org/10.1109/bdicn55575.2022.00091
https://doi.org/10.1109/bdicn55575.2022.00091
Publikováno v:
2022 International Conference on Big Data, Information and Computer Network (BDICN).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c2e092bdb48ca44acf1f9bad92617c5f
https://doi.org/10.1109/bdicn55575.2022.00038
https://doi.org/10.1109/bdicn55575.2022.00038