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]
19天前
已完结
[Mutation analysis of two pedigrees with suspected oculocutaneous albinism]
24天前
已完结
[Diagnosis, treatment and long-term following up of 223 patients with hyperphenylalaninemia detected by neonatal screening programs]
26天前
已关闭
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
26天前
已完结
Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease
1个月前
已完结
[Evaluation of deaf-mute patients with sensitive deafness gene screening in Shandong province]
1个月前
已关闭
[Clinical manifestation and gene analyses of 15 patients with intellectual disability or developmental delay complicated with congenital nystagmus]
1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
1个月前
已完结
Exome sequencing identified mutations in the WNT1 and COL1A2 genes in osteogenesis imperfecta cases
2个月前
已完结
A novel mutation of CYP1B1 gene in primary congenital glaucoma
2个月前
已完结
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