Lv1
20 积分 2024-02-27 加入
[Clinical, biochemical and gene mutation characteristics of short chain acyl-coenzyme A dehydrogenase deficiency by neonatal screening]
5个月前
已完结
[Mutation analysis of two pedigrees with suspected oculocutaneous albinism]
6个月前
已完结
[Diagnosis, treatment and long-term following up of 223 patients with hyperphenylalaninemia detected by neonatal screening programs]
6个月前
已关闭
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
6个月前
已完结
Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease
6个月前
已完结
[Evaluation of deaf-mute patients with sensitive deafness gene screening in Shandong province]
6个月前
已关闭
[Clinical manifestation and gene analyses of 15 patients with intellectual disability or developmental delay complicated with congenital nystagmus]
6个月前
已完结
Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys–Dietz syndrome and phenotype–genotype correlations
6个月前
已完结
Exome sequencing identified mutations in the WNT1 and COL1A2 genes in osteogenesis imperfecta cases
7个月前
已完结
A novel mutation of CYP1B1 gene in primary congenital glaucoma
7个月前
已完结
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