Lv41
748 积分 2023-08-09 加入
Hereditary dehydrated stomatocytosis with splicing site mutation of PIEZO1 mimicking myelodysplastic syndrome diagnosed by targeted next-generation sequencing
5小时前
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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
11天前
已完结
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
11天前
已完结
Clinical phenotypes and genotypic spectrum of cystic fibrosis with pancreatic insufficiency in children
15天前
已完结
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service
21天前
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In vitro functional study of fifteen SRD5A2 variants found in Chinese patients and the relation between the SRD5A2 genotypes and phenotypes
22天前
已完结
Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population
23天前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
23天前
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THE GENETIC BASIS OF CLINICALLY SUSPECTED ACHROMATOPSIA IN THE UNITED ARAB EMIRATES
29天前
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