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56 积分 2021-08-08 加入
Whole-exome sequencing increases the diagnostic rate for prenatal fetal structural anomalies
29天前
已完结
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States
2个月前
已关闭
Biallelic variants in ZFP36L2 cause female infertility characterised by recurrent preimplantation embryo arrest
2个月前
已完结
[Clinical characteristics and genetic features of benign infantile epilepsy with PRRT2 mutation]
4个月前
已完结
[Mutation analysis of 11 Chinese patients with attenuated mucopolysaccharidosis type]
6个月前
已完结
[Phenotypic and genotypic features of twenty children with classic pantothenate kinase-associated neurodegeneration]
7个月前
已完结
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