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30 积分 2025-08-26 加入
Insights into the genotype-phenotype relationship of ocular manifestations in Kabuki syndrome
10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
Genetic diagnosis of common fetal renal abnormalities detected on prenatal ultrasound
1个月前
已完结
Molecular analysis and novel variation identification of Chinese pedigrees with mucopolysaccharidosis using targeted next-generation sequencing
1个月前
已完结
Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China
2个月前
已关闭
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
Newborn screening and genetic variation of medium chain acyl-CoA dehydrogenase deficiency in the Chinese population
2个月前
已完结
A Variable Clinical Presentation of Hemoglobin City of Hope
2个月前
已完结
A case of Bloom syndrome manifesting with therapy-related myelodysplastic syndromes harboring a novel BLM gene variant
2个月前
已完结
Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria
3个月前
已完结
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