Lv3
250 积分 2024-04-11 加入
[Clinical and genetic spectrum of 6 cases with asparagine synthetase deficiency]
14天前
已完结
Biallelic CC2D2A variants, SNV and LINE-1 insertion simultaneously identified in siblings using long-read whole-genome sequencing and haplotype phasing
26天前
已完结
Congenital adrenal hyperplasia
2个月前
已完结
Congenital adrenal hyperplasia
2个月前
已完结
Refractory thrombocytopenia and myelofibrosis in a novel KDSR mutation: Case report and literature review
3个月前
已完结
TAOK1-related neurodevelopmental disorder: A new differential diagnosis for childhood-onset tremor?
3个月前
已完结
Fetal macrocephaly in the third trimester: Prenatal phenotype of TAOK1-associated neurodevelopmental disorder
4个月前
已完结
Genome-Scale Analysis Identifies Novel Genetic Vulnerabilities in Allan Herndon Dudley Syndrome
5个月前
已关闭
Novel IGFALS mutations with predicted pathogenetic effects by the analysis of AlphaFold structure
6个月前
已完结
超高速星载可见光激光通信技术研究（特邀）
4个月前
已采纳
酸枣仁炮制前后镇静催眠作用比较研究
4个月前
已采纳
响应面法优化柞蚕蛹虫草活性肽提取工艺研究
4个月前
已采纳
唾液酸的制备和生物活性研究进展
4个月前
已采纳
性别、年龄对成人BMI超重与肥胖诊断标准影响
4个月前
已采纳
The UFMylation pathway is impaired in Alzheimer's disease
4个月前
已驳回
Fault tolerant control of an octorotor UAV using sliding mode for applications in challenging environments
4个月前
已采纳
新生儿Fraser综合征1例
4个月前
已采纳
PAAVING THE WAY TO HIGH TITRES: EVALUATING PLASMID RATIOS FOR AAV PRODUCTION UTILISING THE AMBR® 15 STIRRED-TANK BIOREACTOR
4个月前
已采纳
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