Lv41
546 积分 2022-01-12 加入
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
3天前
已完结
Disorders of Tetrahydrobiopterin Metabolism: Experience from South India
3天前
已完结
3-Methylglutaconic aciduria in carriers of primary carnitine deficiency
3天前
已完结
High rate of abnormal findings in Prenatal Exome Trio in low risk pregnancies and apparently normal fetuses
6天前
已完结
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children
6天前
已完结
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children
6天前
已完结
Intracranial calcifications simulating Aicardi‐Goutières syndrome in PARS2‐related mitochondrial disease
11天前
已完结
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy]
11天前
已完结
Whole‐exome sequencing identified novel variants in three Chinese Leigh syndrome pedigrees
11天前
已完结
Novel RARS2 Variants: Updating the Diagnosis and Pathogenesis of Pontocerebellar Hypoplasia Type 6
11天前
已完结
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