Lv42
580 积分 2025-01-07 加入
Founder Mutation c.1516A>C in KLHL40 Is a Frequent Cause of Nemaline Myopathy With Hyponatremia in Ethnic Chinese
11小时前
待确认
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
18天前
已完结
Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa
18天前
已完结
[Clinical and molecular genetic analysis for a patient with glycogen storage disease Ⅰa]
19天前
已关闭
New insights from unbiased panel and whole-exome sequencing in a large Chinese cohort with disorders of sex development
22天前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
22天前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis of mut -type methylmalonic acidemia in 365 Chinese cases
22天前
已完结
Clinical, metabolic, and genetic characteristics of 42 children with mitochondrial short-chain enoyl-CoA hydratase 1 deficiency in China
24天前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
24天前
已完结
Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients
25天前
已完结
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