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50 积分 2024-11-20 加入
Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta
1天前
已完结
Novel human pathological mutations. Gene symbol: COL1A2. Disease: osteogenesis imperfecta IV
2天前
已关闭
Novel human pathological mutations. Gene symbol: COL1A2. Disease: osteogenesis imperfecta IV
2天前
已关闭
[Clinical practice guidelines for the diagnosis of regions of homozygosity and uniparental disomy]
4天前
已完结
Incorporating second-tier genetic screening for multiple acyl-CoA dehydrogenase deficiency
5天前
已完结
[Analysis of a pyruvate kinase deficiency consanguineous pedigree caused by Ile314Thr homozygous mutation]
5天前
已完结
Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder
7天前
已完结
[Genotype and phenotype correlation of phenylalanine hydroxylase deficiency among patients from Henan]
10天前
已完结
Cerebrospinal Fluid Biogenic Monoamine Analysis for Diagnosis of Primary Neurotransmitter Disorders
11天前
已完结
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