Lv11
20 积分 2025-08-12 加入
Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients
3小时前
待确认
Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria
8天前
已完结
A yeast assay for functional detection of mutations in the human cystathionine -synthase gene
8天前
已完结
[Genetic variant analysis and prenatal diagnosis for Chinese pedigrees affected with cblC methylmalonic acidemia]
10天前
已完结
Mutation spectrum and genotype-phenotype correlation of pediatric patients with methylmalonic acidemia
10天前
已完结
Preaxial polydactyly associated with a MSX1 mutation and report of two novel mutations
13天前
已完结
Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease
14天前
已完结
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis
20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
24天前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
24天前
已完结
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