Lv21
110 积分 2025-05-07 加入
Performance of single‐gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting
4天前
已完结
Molecular analysis of G6PD variants in northern Italy: a study on the population from the Ferrara district
7天前
已完结
Exploring genotype–phenotype correlations in glutaric aciduria type 1
12天前
已完结
[Analysis of ACADVL gene variations among nine neonates with very long chain acyl-coA dehydrogenase deficiency]
12天前
已完结
Newborn screening and genetic variation of medium chain acyl-CoA dehydrogenase deficiency in the Chinese population
12天前
已完结
Clinical and genetic spectrum of a Chinese cohort with SCN4A gene mutations
14天前
已完结
Clinical and genetic spectrum of a Chinese cohort with SCN4A gene mutations
14天前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
14天前
已完结
[Phenotype and genotype of twelve Chinese children with mitochondrial DNA depletion syndromes]
19天前
已完结
Coexistence of Spinal Muscular Atrophy Type 1 and Factor X1 Deficiency
21天前
已关闭
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