Lv6
2810 积分 2023-11-07 加入
Neonatal sudden death caused by a novel heterozygous mutation in SLC25A20 gene: A case report and brief literature review
4天前
已完结
[Study of the phenylalanine hydroxylase gene variants in patients with phenylketonuria from Jiangxi province]
10天前
已完结
PROGNOSTIC SIGNIFICANCE OF ACTN3 GENOTYPE IN DUCHENNE MUSCULAR DYSTROPHY: FINDINGS FROM AN ARGENTINE PATIENT COHORT
15天前
已完结
Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants
1个月前
已完结
Implementation of Newborn Screening for Mucopolysaccharidosis Type IVA and Long-Term Monitoring in Taiwan
1个月前
已关闭
Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency
1个月前
已完结
Clinical, biochemical and genotypical characteristics in biotinidase deficiency
1个月前
已完结
Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions
1个月前
已完结
Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions
1个月前
已完结
Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil
1个月前
已完结
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