Associated Papers
Single-cell transcriptomics reveals the mechanisms of lung injury induced by galt gene editing in mouse.
Li Z et al.
Biochemical and Biophysical Research Communications, 2025
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
39456122 (PubMed )
Supplement: CTM2-14-e70074-s003.xlsx › Table_S3
Assessment the carrier frequency of monogenic diseases in populations requiring assisted reproductive technology.
Xu X et al.
Bmc Medical Genomics, 2024
A case report of classic galactosemia with a GALT gene variant and a literature review.
Wang YC et al.
Bmc Pediatrics, 2024
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
32005694 (PubMed )
Supplement: jmedgenet-2019-106377supp005.pdf
[Diagnosis of two neonates with galactosemia by using next generation sequencing].
Zhang H et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018
[Analysis of newborn screening for galactosemia and genotype-phenotype of confirmed galatosemia cases].
Yang RL et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2017
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