Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Huijian Yi"'
Autor:
Hunjin Luo, Jiqing Wang, Junfeng Chen, Huijian Yi, Xiaodong Yang, Yao Peng, Liu Ni, Yi-Qiong Yang, Xiao-Min Zhang, Hongping Huang
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Background and aims: Defective enzymes, cofactors, or transporters of metabolic pathways cause inherited metabolic disorders (IMDs), a group of genetic disorders. Several IMDs have serious consequences for the affected neonates. Newborn screening for
Externí odkaz:
https://doaj.org/article/d2cf0f4ff5184dcf91ad6f3d9aabbb7b
Autor:
hunjin Luo, Sainan Tan, Wenying Li, Shu-Xiang Zhou, Liu Ni, Yi-Qiong Yang, Xiao-Min Zhang, Pinghong Huang, Huijian Yi, Xiaodong Yang
Thalassemia is a well-understood genetic disorder, and routine genetic tests typically cover 95% of known genetic mutations. Discordance between the clinical phenotype and genotypes suggest that expanded genetic studies should be performed to look fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f55a5e9cc5766c34e38cdfb1c6a67c8b
https://doi.org/10.22541/au.165500141.10145919/v1
https://doi.org/10.22541/au.165500141.10145919/v1
