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56 积分 2025-03-21 加入
Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta
5天前
已关闭
Analysis of the conformational changes caused by the mutations in mitofusin2 gene by Insilico approach
21天前
已完结
Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity
1个月前
已完结
Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma
2个月前
已关闭
Mutation spectrum and genotype–phenotype correlations in 157 Korean CADASIL patients: a multicenter study
2个月前
已完结
Mutation spectrum and genotype-phenotype correlations in 157 Korean CADASIL patients: a multicenter study
2个月前
已完结
Distinct neurological phenotypes associated with biallelic loss of NOTCH3 function: evidence for recessive inheritance
2个月前
已完结
New insights from unbiased panel and whole-exome sequencing in a large Chinese cohort with disorders of sex development
2个月前
已完结
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