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30 积分 2023-11-16 加入
线粒体糖尿病临床检验诊断专家共识
1个月前
已完结
Factors affecting the detection and quantification of mitochondrial point heteroplasmy using Sanger sequencing and SNaPshot minisequencing
5个月前
已完结
Monitoring the inheritance of heteroplasmy by computer-assisted detection of mixed basecalls in the entire human mitochondrial DNA control region
5个月前
已完结
Searching the undetected mtDNA variants in forensic MPS data
5个月前
已完结
难治性病毒感染和原发噬血细胞性淋巴组织细胞增多症相关基因突变研究
8个月前
已完结
Autism spectrum disorder and comorbid neurodevelopmental disorders (ASD-NDDs): Clinical and genetic profile of a pediatric cohort
11个月前
已完结
Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test
11个月前
已完结
Molecular analysis of SLC25A13 gene in human peripheral blood lymphocytes: Marked transcript diversity, and the feasibility of cDNA cloning as a diagnostic tool for citrin deficiency
11个月前
已完结
The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis
11个月前
已完结
[Diagnosis status and genetic characteristics analysis of Fanconi anemia in China]
1年前
已完结
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