Lv1
30 积分 2022-11-17 加入
[Infant glycogen storage disease type Ⅳ: a clinicopathological and genetic characteristics analysis of five cases]
2个月前
已完结
[Prenatal diagnosis of partial deletion of NRXN1 gene with combined CNV-seq and qPCR assays]
2个月前
已完结
Analysis of gene mutations of medium-chain acyl-coenzyme a dehydrogenase deficiency (MCADD) by next-generation sequencing in Henan, China
2个月前
已完结
The role of the PLA2G6 gene in neurodegenerative diseases
3个月前
已完结
Clinical utility of regions of homozygosity (ROH) identified in exome sequencing: when to pursue confirmatory uniparental disomy testing for imprinting disorders?
3个月前
已完结
[Expert consensus over genetic counseling for carrier screening of Spinal muscular atrophy]
4个月前
已完结
Molecular diagnosis of phenylketonuria in 157 Chinese families and the results of prenatal diagnosis in these families
4个月前
已完结
The spectrum of phenylalanine hydroxylase variants and genotype–phenotype correlation in phenylketonuria patients in Gansu, China
4个月前
已完结
Analysis of genetic variants in four children with congenital hyperinsulinemia
4个月前
已完结
[Genetic diagnosis of a Chinese pedigree affected with neonatal argininosuccinic aciduria]
4个月前
已完结
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