Associated Papers
Clinical and neuroradiologic spectrum of glutaric acidemia type 1 in children: insights from a retrospective cohort in Guangdong Province, China.
Zheng H et al.
Quantitative Imaging in Medicine and Surgery, 2026
Improving newborn screening accuracy through genome sequencing, targeted metabolomics, and machine learning.
Xie Y et al.
Bmc Medical Genomics, 2025
41257776 (PubMed )
Supplement: 12920_2025_2261_MOESM2_ESM.xlsx › Table_S1__NBS_119set
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
37007936 (PubMed )
Supplement: Table3.XLSX › Sheet1
Hardy-Weinberg Equilibrium in the Large Scale Genomic Sequencing Era.
Abramovs N et al.
Frontiers in Genetics, 2020
32231685 (PubMed )
Supplement: Data_Sheet_1.xlsx › Supplementary_Table_1
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