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sophia
Lv3
290 积分
2021-01-13 加入
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Testing of two SNP array–based genealogy algorithms using extended Han Chinese pedigrees and recommendations for improved performances in forensic practice
7天前
已完结
The mutation spectrum of Parkinson‐disease‐related genes in early‐onset Parkinson's disease in ethnic Chinese
15天前
已完结
The spectrum of FVIII gene variants detected by next generation sequencing in 236 Chinese non-inversion hemophilia A pedigrees
1个月前
已完结
A novel tyrosine hydroxylase variant in a group of Chinese patients with dopa-responsive dystonia
1个月前
已完结
Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency
1个月前
已完结
Investigation of GALNS variants and genotype–phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA
1个月前
已完结
Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry
1个月前
已完结
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
4个月前
已完结
Primary hyperoxaluria: Comprehensive mutation screening of the disease causing genes and spectrum of disease‐associated pathogenic variants
6个月前
已完结
Novel and recurrent ASPM mutations of founder effect in Chinese population
8个月前
已完结
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