Lv45
620 积分 2025-05-09 加入
Genetic causes of hearing loss
7天前
已完结
Disease-specific hematopoietic stem cell transplantation in children with inherited bone marrow failure syndromes
15天前
已关闭
Newborn screening and genetic characteristics of patients with short- and very long-chain acyl-CoA dehydrogenase deficiencies
15天前
已完结
Effect of rare coding variants of charged amino acid residues on the function of human organic anion transporting polypeptide 1B3 (SLCO1B3)
15天前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
16天前
已完结
Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening
17天前
已完结
A novel common large genomic deletion and two new missense mutations identified in the Romanian phenylketonuria population
23天前
已关闭
Prenatal diagnosis of Chinese families with phenylketonuria
23天前
已完结
Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing
23天前
已关闭
Phenylketonuria mutations in Northern China
23天前
已完结
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