Lv3
398 积分 2021-11-30 加入
Novel LBR pathogenic variants with loss of sterol reductase activity participate in the pathogenesis of skeletal dysplasia via dysregulating canonical Wnt pathway
15小时前
待确认
Clinical utility of genetic testing in patients with dilated cardiomyopathy
1个月前
已完结
[DMGDH gene-related dimethylglycine dehydrogenase deficiency in a case]
2个月前
已完结
[Expert consensus on the standardized application of whole exome sequencing technology in diagnosis of genetic disorders]
3个月前
已完结
Recurrence of CCHS-associated PHOX2B Poly-Alanine expansion variant due to paternal mosaicism
4个月前
已完结
Prenatal exome sequencing for morphologically normal fetus: Should we be doing it?
10个月前
已完结
[Clinical practice guidelines for Duchenne muscular dystrophy]
10个月前
已完结
International Society for Prenatal Diagnosis Updated Position Statement on the use of genome‐wide sequencing for prenatal diagnosis
10个月前
已完结
高深度全基因组测序应用于胎儿结构异常的测试开发和初步实施的专家共识
10个月前
已关闭
Genome Sequencing for Diagnosing Rare Diseases
11个月前
已完结
Microstructural manipulation and architecture design of carbon-based electrochemical systems
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