Lv3
316 积分 2023-07-21 加入
Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date
8天前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis of mut -type methylmalonic acidemia in 365 Chinese cases
26天前
已关闭
Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population
26天前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
26天前
已完结
Functional studies of mutations in the human protoporphyrinogen oxidase gene in variegate porphyria
1个月前
已关闭
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis
1个月前
已完结
Analysis of germline-somatic mutational connections in colorectal cancer reveals differential tumorigenic patterns and a novel predictive marker for germline mutation carriers
1个月前
已完结
Analysis of germline-somatic mutational connections in colorectal cancer reveals differential tumorigenic patterns and a novel predictive marker for germline mutation carriers
1个月前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
1个月前
已完结
The functional impact of 1,570 individual amino acid substitutions in human OTC
1个月前
已完结
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