Lv1
50 积分 2023-04-04 加入
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II
6天前
已完结
Four novel mutations in the Tyrosine Hydroxylase gene in patients with infantile parkinsonism
24天前
已完结
Large-scale screening and functional study of DUOXA2 variant in 599 Chinese patients with congenital hypothyroidism
24天前
已完结
Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening
27天前
已完结
Two novel compound heterozygous mutations associated with types I and II protein C deficiency with unusual phenotypes
1个月前
已完结
Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran
1个月前
已完结
99 Chinese ASS1 carriers: Genetics, metabolism, and citrulline levels
1个月前
已完结
Anesthesia management in a patient with very long-chain acyl-Coenzyme A dehydrogenase deficiency
1个月前
已完结
Ethylmalonic Encephalopathy: a literature review and two new cases of mild phenotype
1个月前
已完结
Pathogenicity analysis of ATP7B in pediatric patients with Wilson’s disease and functional verification of alternative splice variants
1个月前
已完结
皖公网安备34019202002308
